| geneid | 93 |
|---|---|
| ensemblid | ENSG00000114739.14 |
| hgncid | 174 |
| symbol | ACVR2B |
| name | activin A receptor type 2B |
| refseq_nuc | NM_001106.4 |
| refseq_prot | NP_001097.2 |
| ensembl_nuc | ENST00000352511.5 |
| ensembl_prot | ENSP00000340361.3 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 38453890 |
| end | 38493142 |
| strand | + |
| ver | v1.2 |
| region | chr3:38453890-38493142 |
| region5000 | chr3:38448890-38498142 |
| regionname0 | ACVR2B_chr3_38453890_38493142 |
| regionname5000 | ACVR2B_chr3_38448890_38498142 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVR2B | 1/1 | a0001 | 512 | 408 | 88 | 68 | 194 | 12 | 44 | subcellular location copy fasta | chr3 | 38448890 | 38498142 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 38454374 | + | 1 | -0.9276 | -0.9253 | -0.9141 | 0.0136 | acceptor | a0001 | NA20300.hp1 | HG04199.hp2 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38477287 | + | 2 | 0.9991 | 0.9990 | 0.9990 | 0.0001 | donor | a0001 | HG01255.hp2 HG02055.hp2 |
HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38477494 | + | 2 | -0.9968 | -0.9967 | -0.9966 | 0.0003 | acceptor | a0001 | NA19075.hp1 | HG01243.hp1 HG02486.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 others(1): Show |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38477861 | + | 3 | 0.9974 | 0.9972 | 0.9971 | 0.0003 | donor | a0001 | HG00738.hp1 HG01433.hp1 HG03225.hp2 HG04199.hp1 |
NA19075.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38477970 | + | 3 | -0.9984 | -0.9982 | -0.9982 | 0.0001 | acceptor | a0001 | HG04199.hp1 | NA19075.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38478141 | + | 4 | 0.9995 | 0.9995 | 0.9994 | 0.0001 | donor | a0001 | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(116): Show |
HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38478292 | + | 4 | -0.9998 | -0.9998 | -0.9998 | 0.0000 | acceptor | a0001 | NA19075.hp1 | HG03098.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38478375 | + | 5 | 0.9977 | 0.9972 | 0.9901 | 0.0076 | donor | a0001 | NA19075.hp1 | HG03098.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38478518 | + | 5 | -0.9993 | -0.9993 | -0.9961 | 0.0032 | acceptor | a0001 | HG03471.hp2 | HG02895.hp1 HG02897.hp1 HG03209.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38479128 | + | 6 | 0.9982 | 0.9982 | 0.9977 | 0.0005 | donor | a0001 | HG01255.hp2 HG02055.hp2 |
NA19075.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38479271 | + | 6 | -0.9996 | -0.9994 | -0.9994 | 0.0002 | acceptor | a0001 | HG04199.hp1 | NA19075.hp1 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38479678 | + | 7 | 0.9989 | 0.9988 | 0.9982 | 0.0007 | donor | a0001 | HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
HG00738.hp1 HG01167.hp1 HG01433.hp1 HG01516.hp1 HG02683.hp1 others(3): Show |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38479826 | + | 7 | -0.9974 | -0.9972 | -0.9971 | 0.0002 | acceptor | a0001 | NA19075.hp1 | HG03471.hp2 | ACVR2B | chr3 | 38448890 | 38498142 |
| 38481351 | + | 8 | 0.9977 | 0.9976 | 0.9971 | 0.0006 | donor | a0001 | NA20300.hp2 | HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38481465 | + | 8 | -0.9984 | -0.9983 | -0.9982 | 0.0002 | acceptor | a0001 | HG01167.hp1 HG01516.hp1 HG02683.hp1 NA20805.hp2 |
HG00738.hp1 HG01433.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38482198 | + | 9 | 0.9996 | 0.9994 | 0.9993 | 0.0003 | donor | a0001 | HG00738.hp1 HG01433.hp1 |
HG01884.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38482336 | + | 9 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0001 | HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 others(181): Show |
HG01884.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38482430 | + | 10 | 0.9995 | 0.9995 | 0.9995 | 0.0000 | donor | a0001 | HG01884.hp1 HG02486.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp1 others(10): Show |
HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(107): Show |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38482560 | + | 10 | -0.9995 | -0.9994 | -0.9984 | 0.0010 | acceptor | a0001 | HG01515.hp2 | HG01884.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 |
ACVR2B | chr3 | 38448890 | 38498142 |
| 38483138 | + | 11 | 0.9959 | 0.9955 | 0.9909 | 0.0050 | donor | a0001 | HG01515.hp2 | HG01167.hp1 HG01516.hp1 HG02683.hp1 NA20805.hp2 |
ACVR2B | chr3 | 38448890 | 38498142 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 38492642:splice 38492642:variant goto | c.*9318dupA | 345043 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450 |
+ | 2 | 4 | 131 | 191 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0005 | a0001c0001t0006a0001c0001t0008a0001c0001t0014a0001c0001t0015a0001c0001t0016others(126): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032others(186): Show | HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(261): Show |
MODIFIER | chr3 | T | TA | TogoVar |
| 38492651:splice 38492651:variant goto | c.*9319T>A | 345049 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 3 | 83 | 109 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0008a0001c0001t0014a0001c0001t0015a0001c0001t0016others(78): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032others(104): Show | HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 others(125): Show |
MODIFIER | chr3 | T | A | TogoVar |
| 38479934:splice 38479934:variant goto | c.959+108C>T | 1259960 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 5 | 106 | 160 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38484243:splice 38484243:variant goto | c.*911C>T | 344939 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 5 | 106 | 160 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38486422:splice 38486422:variant goto | c.*3090C>T | 344974 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 5 | 106 | 160 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38487949:splice 38487949:variant goto | c.*4617C>G | 344991 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 5 | 106 | 160 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
MODIFIER | chr3 | C | G | TogoVar |
| 38485666:splice 38485666:variant goto | c.*2361dupT | 344962 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450|MedGen:C3661900 |
+ | 1 | 2 | 78 | 108 | a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0014a0001c0001t0015a0001c0001t0016others(73): Show | a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032a0001c0001t0008g0092a0001c0001t0009g0007others(103): Show | HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 others(132): Show |
MODIFIER | chr3 | C | CT | TogoVar |
| 38482703:splice 38482703:variant goto | c.1344+143G>C | 1238984 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 62 | 80 | a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0015a0001c0001t0016a0001c0001t0018others(57): Show | a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032a0001c0001t0008g0092a0001c0001t0014g0004others(75): Show | HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 others(90): Show |
MODIFIER | chr3 | G | C | TogoVar |
| 38479510:splice 38479510:variant goto | c.811-168C>T | 1244071 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 13 | 16 | a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0031a0001c0001t0050a0001c0001t0051a0001c0001t0056others(8): Show | a0001c0001t0009g0007a0001c0001t0009g0036a0001c0001t0031g0034a0001c0001t0031g0137a0001c0001t0050g0036others(11): Show | HG00639.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 others(17): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38492803:splice 38492803:variant goto | c.*9471C>T | 345056 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 17 | 21 | a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0058a0001c0001t0174a0001c0001t0175a0001c0001t0176others(12): Show | a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132a0001c0001t0017g0135a0001c0001t0058g0011others(16): Show | HG00639.hp1 HG01074.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp1 others(16): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38491048:splice 38491048:variant goto | c.*7719delA | 345026 | Likely_benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450 |
+ | 1 | 1 | 16 | 20 | a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0058a0001c0001t0174a0001c0001t0175a0001c0001t0176others(11): Show | a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132a0001c0001t0017g0135a0001c0001t0058g0011others(15): Show | HG00639.hp1 HG01074.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp1 others(15): Show |
MODIFIER | chr3 | TA | T | TogoVar |
| 38483924:splice 38483924:variant goto | c.*592C>T | 344934 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 9 | 10 | a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0201a0001c0001t0202a0001c0001t0203a0001c0001t0204others(4): Show | a0001c0001t0018g0010a0001c0001t0018g0030a0001c0001t0201g0010a0001c0001t0202g0010a0001c0001t0203g0010others(5): Show | HG00408.hp1 HG03834.hp2 NA18956.hp1 NA18968.hp2 NA18970.hp1 others(7): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38486501:splice 38486501:variant goto | c.*3169T>A | 902071 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 6 | 6 | a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0109a0001c0001t0110a0001c0001t0111a0001c0001t0131others(1): Show | a0001c0001t0022g0012a0001c0001t0109g0086a0001c0001t0110g0028a0001c0001t0111g0012a0001c0001t0131g0028others(1): Show | NA18944.hp2 NA18949.hp1 NA18952.hp2 NA18966.hp2 NA18980.hp2 others(3): Show |
MODIFIER | chr3 | T | A | TogoVar |
| 38492805:splice 38492805:variant goto | c.*9473T>C | 899507 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 5 | 6 | a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0067a0001c0001t0112a0001c0001t0134a0001c0001t0160 | a0001c0001t0025g0006a0001c0001t0025g0098a0001c0001t0067g0056a0001c0001t0112g0018a0001c0001t0134g0018others(1): Show | HG01361.hp2 NA18942.hp1 NA18967.hp1 NA18991.hp2 NA19003.hp1 others(2): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38486459:splice 38486459:variant goto | c.*3127G>A | 344975 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0024 | HG01255.hp2 HG02055.hp2 |
MODIFIER | chr3 | G | A | TogoVar |
| 38490711:splice 38490711:variant goto | c.*7379G>A | 345020 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 2 | 3 | a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0048 | a0001c0001t0047g0024a0001c0001t0048g0054a0001c0001t0048g0055 | HG01255.hp2 HG02055.hp2 HG06807.hp1 NA18522.hp1 |
MODIFIER | chr3 | G | A | TogoVar |
| 38485666:splice 38485666:variant goto | c.*2360_*2361dupTT | 344963 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450|MedGen:C3661900 |
+ | 1 | 2 | 9 | 9 | a0001 | a0001c0001a0001c0003 | a0001c0001t0057a0001c0001t0166a0001c0001t0167a0001c0001t0168a0001c0001t0207others(4): Show | a0001c0001t0057g0031a0001c0001t0166g0093a0001c0001t0167g0109a0001c0001t0168g0032a0001c0001t0207g0069others(4): Show | HG02056.hp1 HG02738.hp2 HG02970.hp1 HG03239.hp2 HG03490.hp1 others(6): Show |
MODIFIER | chr3 | C | CTT | TogoVar |
| 38485289:splice 38485289:variant goto | c.*1957T>G | 344952 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 5 | 6 | a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0174a0001c0001t0175a0001c0001t0176a0001c0001t0177 | a0001c0001t0058g0011a0001c0001t0058g0125a0001c0001t0174g0011a0001c0001t0175g0011a0001c0001t0176g0011others(1): Show | HG00639.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02723.hp1 others(1): Show |
MODIFIER | chr3 | T | G | TogoVar |
| 38483820:splice 38483820:variant goto | c.*488G>T | 902840 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 4 | 4 | a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0210a0001c0001t0211a0001c0001t0212 | a0001c0001t0064g0008a0001c0001t0210g0008a0001c0001t0211g0052a0001c0001t0212g0008 | NA18948.hp2 NA18949.hp2 NA18965.hp2 NA19064.hp2 NA19088.hp1 |
MODIFIER | chr3 | G | T | TogoVar |
| 38485374:splice 38485374:variant goto | c.*2042C>T | 344956 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 3 | 3 | a0001 | a0001c0001 | a0001c0001t0066a0001c0001t0067a0001c0001t0068 | a0001c0001t0066g0075a0001c0001t0067g0056a0001c0001t0068g0053 | HG01928.hp1 HG02647.hp2 NA18991.hp2 |
MODIFIER | chr3 | C | T | TogoVar |
| 38483536:splice 38483536:variant goto | c.*204C>T | 344926 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0068 | a0001c0001t0067g0056a0001c0001t0068g0053 | HG01928.hp1 NA18991.hp2 |
MODIFIER | chr3 | C | T | TogoVar |
| 38483726:splice 38483726:variant goto | c.*394G>A | 344929 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 4 | 4 | a0001 | a0001c0001 | a0001c0001t0071a0001c0001t0072a0001c0001t0073a0001c0001t0074 | a0001c0001t0071g0017a0001c0001t0072g0017a0001c0001t0073g0017a0001c0001t0074g0061 | HG01167.hp2 HG01169.hp2 HG02622.hp2 HG03041.hp1 |
MODIFIER | chr3 | G | A | TogoVar |
| 38482567:splice 38482567:variant goto | c.1344+7G>T | 136291 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:CN169374 |
+ | 1 | 1 | 11 | 11 | a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0125a0001c0001t0126a0001c0001t0127a0001c0001t0128others(6): Show | a0001c0001t0108g0139a0001c0001t0125g0009a0001c0001t0126g0009a0001c0001t0127g0009a0001c0001t0128g0140others(6): Show | HG02486.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp2 others(6): Show |
LOW | chr3 | G | T | TogoVar |
| 38487080:splice 38487080:variant goto | c.*3748G>T | 344982 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 11 | 11 | a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0125a0001c0001t0126a0001c0001t0127a0001c0001t0128others(6): Show | a0001c0001t0108g0139a0001c0001t0125g0009a0001c0001t0126g0009a0001c0001t0127g0009a0001c0001t0128g0140others(6): Show | HG02486.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp2 others(6): Show |
MODIFIER | chr3 | G | T | TogoVar |
| 38487288:splice 38487288:variant goto | c.*3956A>G | 344984 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0163 | a0001c0001t0124g0007a0001c0001t0163g0007 | HG02145.hp2 HG03041.hp2 |
MODIFIER | chr3 | A | G | TogoVar |
| 38489505:splice 38489505:variant goto | c.*6173A>C | 345009 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0004 | HG01361.hp2 | MODIFIER | chr3 | A | C | TogoVar |
| 38489032:splice 38489032:variant goto | c.*5700A>C | 345004 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0161a0001c0001t0162 | a0001c0001t0161g0035a0001c0001t0162g0035 | HG01109.hp2 NA20129.hp1 |
MODIFIER | chr3 | A | C | TogoVar |
| 38485124:splice 38485124:variant goto | c.*1792C>T | 902010 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0169 | a0001c0001t0169g0066 | NA18997.hp2 | MODIFIER | chr3 | C | T | TogoVar |
| 38484988:splice 38484988:variant goto | c.*1656A>T | 344950 | Likely_benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0143 | HG01934.hp2 | MODIFIER | chr3 | A | T | TogoVar |
| 38492312:splice 38492312:variant goto | c.*8980T>C | 903128 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0182 | a0001c0001t0182g0127 | NA18945.hp2 | MODIFIER | chr3 | T | C | TogoVar |
| 38492808:splice 38492808:variant goto | c.*9476A>C | 899508 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0212 | a0001c0001t0212g0008 | NA18965.hp2 | MODIFIER | chr3 | A | C | TogoVar |
| 38483752:splice 38483752:variant goto | c.*420A>G | 344930 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0213 | a0001c0001t0213g0082 | NA19000.hp1 | MODIFIER | chr3 | A | G | TogoVar |
| 38486165:splice 38486165:variant goto | c.*2833C>T | 901502 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0213 | a0001c0001t0213g0082 | NA19000.hp1 | MODIFIER | chr3 | C | T | TogoVar |
| 38483419:splice 38483419:variant goto | c.*87A>G | 344923 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 3 | 3 | a0001 | a0001c0001 | a0001c0001t0214a0001c0001t0215a0001c0001t0216 | a0001c0001t0214g0020a0001c0001t0215g0134a0001c0001t0216g0020 | HG01074.hp2 HG01981.hp2 NA18906.hp1 |
MODIFIER | chr3 | A | G | TogoVar |
| 38477933:splice 38477933:variant goto | c.333A>Gp.Glu111Glu | 257468 | Benign | ACVR2B:93 | SO:0001819 synonymous_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:CN169374|MedGen:C3661900 |
+ | 2 | 4 | 67 | 113 | a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(62): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(108): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(176): Show |
LOW | chr3 | A | G | TogoVar |
| 38489720:splice 38489720:variant goto | c.*6388T>G | 345010 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 3 | 57 | 102 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(52): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(97): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(163): Show |
MODIFIER | chr3 | T | G | TogoVar |
| 38491844:splice 38491844:variant goto | c.*8512A>C | 345032 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 3 | 57 | 102 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(52): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(97): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(163): Show |
MODIFIER | chr3 | A | C | TogoVar |
| 38482820:splice 38482820:variant goto | c.1344+260A>G | 1249647 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 4 | 44 | 80 | a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(39): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(75): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(128): Show |
MODIFIER | chr3 | A | G | TogoVar |
| 38482837:splice 38482837:variant goto | c.1344+277G>C | 1225801 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 4 | 44 | 80 | a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(39): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(75): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(128): Show |
MODIFIER | chr3 | G | C | TogoVar |
| 38485724:splice 38485724:variant goto | c.*2392T>C | 344967 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 4 | 44 | 80 | a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(39): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(75): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(128): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38479665:splice 38479665:variant goto | c.811-13T>C | 257470 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:CN169374|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:C3661900 |
+ | 2 | 3 | 35 | 70 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(30): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(65): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(116): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38482004:splice 38482004:variant goto | c.1075-194G>T | 1291657 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | G | T | TogoVar |
| 38483251:splice 38483251:variant goto | c.1458C>Tp.Asn486Asn | 257467 | Benign | ACVR2B:93 | SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:CN169374 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
LOW | chr3 | C | T | TogoVar |
| 38484076:splice 38484076:variant goto | c.*744T>C | 344937 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38484373:splice 38484373:variant goto | c.*1041A>C | 344940 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | A | C | TogoVar |
| 38487046:splice 38487046:variant goto | c.*3714G>T | 344981 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | G | T | TogoVar |
| 38488327:splice 38488327:variant goto | c.*4995C>T | 344995 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38491020:splice 38491020:variant goto | c.*7688G>A | 345025 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 2 | 2 | 34 | 69 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(64): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(115): Show |
MODIFIER | chr3 | G | A | TogoVar |
| 38484675:splice 38484675:variant goto | c.*1346_*1347delAA | 344943 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450 |
+ | 1 | 1 | 26 | 57 | a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(21): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(52): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(103): Show |
MODIFIER | chr3 | CAA | C | TogoVar |
| 38488334:splice 38488334:variant goto | c.*5002C>T | 344996 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 26 | 57 | a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(21): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(52): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(103): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38485666:splice 38485666:variant goto | c.*2359_*2361delTTT | 344964 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450 |
+ | 2 | 2 | 28 | 61 | a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0021a0001c0002t0041others(23): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(56): Show | HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00733.hp2 HG00738.hp1 others(98): Show |
MODIFIER | chr3 | CTTT | C | TogoVar |
| 38454574:splice 38454574:variant goto | c.52+200C>T | 1183589 | Benign | ACVR2B:93 ACVR2B-AS1:100128640 |
SO:0001619 non-coding_transcript_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 26 | 56 | a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(21): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(51): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(102): Show |
MODIFIER | chr3 | C | T | TogoVar |
| 38482872:splice 38482872:variant goto | c.1345-266C>T | 1276021 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 3 | 4 | a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0043 | a0001c0002t0001g0023a0001c0002t0001g0166a0001c0002t0003g0023a0001c0002t0043g0023 | HG00741.hp2 HG01123.hp1 HG03017.hp1 NA20752.hp2 |
MODIFIER | chr3 | C | T | TogoVar |
| 38479605:splice 38479605:variant goto | c.811-73C>T | 1252357 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043a0001c0002t0001g0167 | HG01099.hp1 HG02145.hp1 HG02698.hp2 |
MODIFIER | chr3 | C | T | TogoVar |
| 38482193:splice 38482193:variant goto | c.1075-5C>T | 136290 | Benign/Likely_benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:CN169374 |
+ | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0048a0001c0002t0041g0087 | HG00738.hp1 HG01433.hp1 |
LOW | chr3 | C | T | TogoVar |
| 38492649:splice 38492649:variant goto | c.*9317_*9318insT | 345046 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450|MedGen:C3661900 |
+ | 1 | 2 | 23 | 34 | a0001 | a0001c0002a0001c0003 | a0001c0002t0042a0001c0002t0098a0001c0002t0099a0001c0003t0005a0001c0003t0010others(18): Show | a0001c0002t0042g0113a0001c0002t0042g0145a0001c0002t0098g0185a0001c0002t0099g0042a0001c0003t0005g0003others(29): Show | HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01496.hp1 HG01952.hp1 others(41): Show |
MODIFIER | chr3 | A | AT | TogoVar |
| 38483808:splice 38483808:variant goto | c.*476C>T | 344931 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0114a0001c0002t0065g0115 | HG02615.hp1 HG02818.hp2 |
MODIFIER | chr3 | C | T | TogoVar |
| 38491519:splice 38491519:variant goto | c.*8187G>A | 345029 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0114a0001c0002t0065g0115 | HG02615.hp1 HG02818.hp2 |
MODIFIER | chr3 | G | A | TogoVar |
| 38488295:splice 38488295:variant goto | c.*4963T>A | 344994 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0050 | HG03225.hp2 | MODIFIER | chr3 | T | A | TogoVar |
| 38489970:splice 38489970:variant goto | c.*6638C>T | 345014 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0100 | a0001c0002t0100g0001 | NA20905.hp2 | MODIFIER | chr3 | C | T | TogoVar |
| 38486666:splice 38486666:variant goto | c.*3334G>T | 344978 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0102 | a0001c0002t0102g0001 | HG01433.hp2 | MODIFIER | chr3 | G | T | TogoVar |
| 38484761:splice 38484761:variant goto | c.*1429C>T | 344946 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0105 | a0001c0002t0105g0001 | HG01106.hp2 | MODIFIER | chr3 | C | T | TogoVar |
| 38454302:splice 38454302:variant goto | c.-21C>T | 901876 | Uncertain_significance | ACVR2B:93 ACVR2B-AS1:100128640 LOC129936486:129936486 |
SO:0001623 5_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0217 | a0001c0002t0217g0001 | HG04199.hp2 | MODIFIER | chr3 | C | T | TogoVar |
| 38483833:splice 38483833:variant goto | c.*501G>C | 344933 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 23 | 33 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(18): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(28): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
MODIFIER | chr3 | G | C | TogoVar |
| 38484097:splice 38484097:variant goto | c.*765G>A | 344938 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 23 | 33 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(18): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(28): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
MODIFIER | chr3 | G | A | TogoVar |
| 38485612:splice 38485612:variant goto | c.*2280A>G | 344959 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 23 | 33 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(18): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(28): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
MODIFIER | chr3 | A | G | TogoVar |
| 38488588:splice 38488588:variant goto | c.*5256A>G | 345000 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 23 | 33 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(18): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(28): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
MODIFIER | chr3 | A | G | TogoVar |
| 38490280:splice 38490280:variant goto | c.*6948G>A | 345015 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 23 | 33 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(18): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(28): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
MODIFIER | chr3 | G | A | TogoVar |
| 38486232:splice 38486232:variant goto | c.*2900T>C | 344972 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 22 | 32 | a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011a0001c0003t0012a0001c0003t0019others(17): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159a0001c0003t0010g0003a0001c0003t0011g0146others(27): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 others(42): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38492649:splice 38492649:variant goto | c.*9317_*9318insTAT | 345047 | Uncertain_significance | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0018677 MedGen:C3178805 OMIM:PS306955 Orphanet:450 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0003 | a0001c0003t0020a0001c0003t0038 | a0001c0003t0020g0003a0001c0003t0038g0003 | HG00544.hp1 HG00558.hp2 HG02165.hp2 NA18964.hp1 NA18971.hp2 |
MODIFIER | chr3 | A | ATAT | TogoVar |
| 38481279:splice 38481279:variant goto | c.960-72T>C | 1250985 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 8 | a0001 | a0001c0003 | a0001c0003t0061a0001c0003t0062a0001c0003t0172a0001c0003t0173a0001c0003t0179others(2): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019a0001c0003t0172g0120a0001c0003t0173g0119others(3): Show | HG01243.hp1 HG01884.hp1 HG02486.hp1 HG02922.hp2 HG02976.hp2 others(4): Show |
MODIFIER | chr3 | T | C | TogoVar |
| 38482847:splice 38482847:variant goto | c.1344+287C>G | 1295055 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 8 | a0001 | a0001c0003 | a0001c0003t0061a0001c0003t0062a0001c0003t0172a0001c0003t0173a0001c0003t0179others(2): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019a0001c0003t0172g0120a0001c0003t0173g0119others(3): Show | HG01243.hp1 HG01884.hp1 HG02486.hp1 HG02922.hp2 HG02976.hp2 others(4): Show |
MODIFIER | chr3 | C | G | TogoVar |
| 38486648:splice 38486648:variant goto | c.*3316G>A | 344977 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 7 | 8 | a0001 | a0001c0003 | a0001c0003t0061a0001c0003t0062a0001c0003t0172a0001c0003t0173a0001c0003t0179others(2): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019a0001c0003t0172g0120a0001c0003t0173g0119others(3): Show | HG01243.hp1 HG01884.hp1 HG02486.hp1 HG02922.hp2 HG02976.hp2 others(4): Show |
MODIFIER | chr3 | G | A | TogoVar |
| 38485757:splice 38485757:variant goto | c.*2425G>A | 344968 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 2 | 10 | 11 | a0001 | a0001c0003a0001c0004 | a0001c0003t0061a0001c0003t0062a0001c0003t0172a0001c0003t0173a0001c0003t0179others(5): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019a0001c0003t0172g0120a0001c0003t0173g0119others(6): Show | HG01243.hp1 HG01884.hp1 HG02486.hp1 HG02895.hp1 HG02897.hp1 others(8): Show |
MODIFIER | chr3 | G | A | TogoVar |
| 38482595:splice 38482595:variant goto | c.1344+35G>A | 1276280 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 3 | 3 | a0001 | a0001c0003 | a0001c0003t0062a0001c0003t0179a0001c0003t0197 | a0001c0003t0062g0019a0001c0003t0179g0019a0001c0003t0197g0118 | HG01884.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 |
MODIFIER | chr3 | G | A | TogoVar |
| 38491358:splice 38491358:variant goto | c.*8026C>T | 900565 | Benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0155 | HG02258.hp2 | MODIFIER | chr3 | C | T | TogoVar |
| 38485147:splice 38485147:variant goto | c.*1815G>A | 902900 | Likely_benign | ACVR2B:93 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0003 | a0001c0003t0172a0001c0003t0173 | a0001c0003t0172g0120a0001c0003t0173g0119 | HG02486.hp1 HG02976.hp2 |
MODIFIER | chr3 | G | A | TogoVar |
| 38478523:splice 38478523:variant goto | c.666+5G>A | 238305 | Benign | ACVR2B:93 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:CN169374 |
+ | 1 | 1 | 3 | 3 | a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
LOW | chr3 | G | A | TogoVar |
| 38481384:splice 38481384:variant goto | c.993C>Tp.Ser331Ser | 238306 | Benign | ACVR2B:93 | SO:0001819 synonymous_variant |
MONDO:MONDO:0013403 MedGen:C3151057 OMIM:613751 Orphanet:450|MedGen:C3661900|MedGen:CN169374 |
+ | 1 | 1 | 3 | 3 | a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 |
LOW | chr3 | C | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:38456948
|
c.52+2574A>G |
Estimated glomerular filtration rate0.29 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(61): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(104): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(172): Show |
Trans-ethnic kidney function association study rev others(78): Show |
134,070 European ancestry individuals, 143,658 Eas others(113): Show |
XYLB | ACVR2B | rs36070911-G | + | MODIFIER | chr3 | A | G |
|
chr3:38485724
|
c.*2392T>C |
Estimated glomerular filtration rate0.00 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(39): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(75): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(128): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals, 165,726 Eas others(211): Show |
ACVR2B | ACVR2B | rs11914389-T | + | MODIFIER | chr3 | T | C |
|
chr3:38454702
|
c.52+328G>C | Body mass index | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(25): Show | a0001c0002t0001g0001a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044a0001c0002t0001g0166others(55): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 others(103): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ACVR2B-AS1, ACVR2B | rs3749387-? | + | MODIFIER | chr3 | G | C | |
|
chr3:38496180
|
c.*12848T>G | Appendicular lean mass0.0185 | a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0014others(109): Show | a0001c0001t0007g0067a0001c0001t0007g0100a0001c0001t0007g0103a0001c0001t0007g0108a0001c0001t0008g0006others(139): Show | HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 others(167): Show |
The genetic architecture of appendicular lean mass others(63): Show |
450,243 European ancestry individuals/ | EXOG | EXOG | rs9838614-T | + | MODIFIER | chr3 | T | G |
|
chr3:38452090
|
c.-2233C>T | 12-lead ECG morphology phenotype | a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0045a0001c0002t0096a0001c0002t0097a0001c0002t0099 | a0001c0002t0001g0043a0001c0002t0001g0167a0001c0002t0045g0041a0001c0002t0045g0042a0001c0002t0096g0001others(2): Show | HG01099.hp1 HG01167.hp1 HG01516.hp1 HG02055.hp1 HG02145.hp1 others(3): Show |
Genome-wide association and Mendelian randomizatio others(147): Show |
41,960 European ancestry individuals/ | ACVR2B-AS1 | rs75221584-? | + | MODIFIER | chr3 | C | T | |
|
chr3:38474584
|
c.53-2703A>G | Body size at age 100.00799477 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(52): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(97): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(163): Show |
Use of genetic variation to separate the effects o others(80): Show |
453,169 European ancestry individuals/ | ACVR2B | ACVR2B | rs2268762-A | + | MODIFIER | chr3 | A | G |
|
chr3:38472836
|
c.53-4451G>A | Bitter beverage consumption0.0079 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0005 | a0001c0001t0118a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004others(53): Show | a0001c0001t0118g0078a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043others(94): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(160): Show |
A genome-wide association study of bitter and swee others(23): Show |
85,852 European ancestry individuals/39,924 Europe others(23): Show |
ACVR2B | ACVR2B | rs2268759-A | + | MODIFIER | chr3 | G | A |
|
chr3:38486422
|
c.*3090C>T | Body mass index0.0103 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
Genetic architecture reconciles linkage and associ others(32): Show |
650,000 European ancestry individuals/ | ACVR2B | rs11926767-C | + | MODIFIER | chr3 | C | T | |
|
chr3:38486422
|
c.*3090C>T | Body mass index0.01 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
Genomics and phenomics of body mass index reveals others(26): Show |
1,122,049 European ancestry individuals/ | ACVR2B | rs11926767-C | + | MODIFIER | chr3 | C | T | |
|
chr3:38496180
|
c.*12848T>G | Body mass index (MTAG)0.009901 | a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0014others(109): Show | a0001c0001t0007g0067a0001c0001t0007g0100a0001c0001t0007g0103a0001c0001t0007g0108a0001c0001t0008g0006others(139): Show | HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 others(167): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
694,649 European ancestry individuals/ | EXOG | rs9838614-T | + | MODIFIER | chr3 | T | G | |
|
chr3:38472836
|
c.53-4451G>A | Body composition (MOSTest)6.01 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0005 | a0001c0001t0118a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004others(53): Show | a0001c0001t0118g0078a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043others(94): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(160): Show |
The link between liver fat and cardiometabolic dis others(98): Show |
33,588 European ancestry individuals/ | ACVR2B | rs2268759-? | + | MODIFIER | chr3 | G | A | |
|
chr3:38484243
|
c.*911C>T | Estimated glomerular filtration rate (creatinine)others(15): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
ACVR2B | rs6599204-T | + | MODIFIER | chr3 | C | T | |
|
chr3:38474878
|
c.53-2409C>A | Creatinine levels0.00380473 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(51): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(96): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(161): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,850 Taiwanese ancestry individuals/ | ACVR2B | rs762318-? | + | MODIFIER | chr3 | C | A | |
|
chr3:38474584
|
c.53-2703A>G | Drinks per week0.00767 | a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(52): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(97): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(163): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
2,428,851 European ancestry individuals/ | ACVR2B | rs2268762-G | + | MODIFIER | chr3 | A | G | |
|
chr3:38477933
|
c.333A>Gp.Glu111Glu | Drinks per week0.00693 | a0001a0002 | a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003a0001c0002t0004a0001c0002t0021others(62): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023a0001c0002t0001g0043a0001c0002t0001g0044others(108): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(176): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
2,965,643 European ancestry, East Asian ancestry, others(57): Show |
ACVR2B | rs2070489-G | + | LOW | chr3 | A | G | |
|
chr3:38487949
|
c.*4617C>G |
Impedance of arm left (UKB data field 23110)< others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0032a0001c0001t0033a0001c0001t0034others(101): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(155): Show | HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(232): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ACVR2B | rs6599205-G | + | MODIFIER | chr3 | C | G |