| geneid | 525 |
|---|---|
| ensemblid | ENSG00000116039.13 |
| hgncid | 853 |
| symbol | ATP6V1B1 |
| name | ATPase H+ transporting V1 subunit B1 |
| refseq_nuc | NM_001692.4 |
| refseq_prot | NP_001683.2 |
| ensembl_nuc | ENST00000234396.10 |
| ensembl_prot | ENSP00000234396.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 70935900 |
| end | 70965431 |
| strand | + |
| ver | v1.2 |
| region | chr2:70935900-70965431 |
| region5000 | chr2:70930900-70970431 |
| regionname0 | ATP6V1B1_chr2_70935900_70965431 |
| regionname5000 | ATP6V1B1_chr2_70930900_70970431 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:70935956
|
T | C | 0.3455 | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0 | ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | c.2T>C | p.Met1? | 57/1907 | 2/1542 | 1/513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:70935981
|
T | C | 0.1568 | synonymous_variant | LOW | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(66): Show |
a0002a0004 | a0002c0008a0002c0010a0002c0011others(5): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002others(7): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365others(65): Show | 69 | 440 | 0 | ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | c.27T>C | p.Pro9Pro | 82/1907 | 27/1542 | 9/513 | ||
|
chr2:70943677
|
C | T | 0.3159 | synonymous_variant | LOW | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0035others(10): Show | a0001c0002t0001a0001c0007t0001a0001c0007t0011others(11): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0011others(127): Show | 139 | 440 | 0 | ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/14 | c.138C>T | p.Ser46Ser | 193/1907 | 138/1542 | 46/513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:70935921
|
C | T | 0.1568 | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(66): Show |
a0002a0004 | a0002c0008a0002c0010a0002c0011others(5): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002others(7): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365others(65): Show | 69 | 440 | 0 | ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | c.-34C>T | 34 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1B1 | 0/1 | a0002 | 511 | 142 | 34 | 16 | 76 | 2 | 13 | subcellular location copy fasta | chr2 | 70930900 | 70970431 |
| 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1B1 | 0/0 | c0018 | 1542 | 2 | 0 | 0 | 1 | 0 | 1 | copy fasta | chr2 | 70930900 | 70970431 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1B1 | 0/0 | t0002 | 366 | 58 | 15 | 3 | 31 | 0 | 9 | copy fasta | chr2 | 70930900 | 70970431 |
| 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1B1 | 0/0 | a0002c0018 | 2 | 0 | 0 | 1 | 0 | 1 | 1542 | copy fasta | chr2 | 70930900 | 70970431 |
| 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1B1 | 0/0 | a0002c0018t0002 | 2 | 0 | 0 | 1 | 0 | 1 | 1907 | copy fasta | chr2 | 70930900 | 70970431 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70936072 | + | 1 | -0.4713 | -0.4707 | -0.4701 | 0.0012 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70943658 | + | 2 | 0.8580 | 0.8473 | 0.8367 | 0.0212 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70943713 | + | 2 | -0.9772 | -0.9749 | -0.9726 | 0.0046 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70958046 | + | 3 | 0.9977 | 0.9976 | 0.9975 | 0.0001 | donor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70958144 | + | 3 | -0.9986 | -0.9986 | -0.9985 | 0.0001 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70958333 | + | 4 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70958426 | + | 4 | -0.9942 | -0.9941 | -0.9941 | 0.0001 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70959018 | + | 5 | 0.9987 | 0.9986 | 0.9986 | 0.0000 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70959095 | + | 5 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70959939 | + | 6 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0002c0018t0002 | HG03704.hp1 NA18951.hp1 |
HG03704.hp1 NA18951.hp1 |
ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70960078 | + | 6 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 NA18951.hp1 |
HG03704.hp1 NA18951.hp1 |
ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70960921 | + | 7 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70961022 | + | 7 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70961596 | + | 8 | 0.9511 | 0.9511 | 0.9511 | 0.0000 | donor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70961693 | + | 8 | -0.9014 | -0.9014 | -0.9014 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 NA18951.hp1 |
HG03704.hp1 NA18951.hp1 |
ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70962777 | + | 9 | 0.9921 | 0.9920 | 0.9920 | 0.0001 | donor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70962900 | + | 9 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 NA18951.hp1 |
HG03704.hp1 NA18951.hp1 |
ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70963162 | + | 10 | 0.9477 | 0.9475 | 0.9474 | 0.0003 | donor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70963312 | + | 10 | -0.9288 | -0.9288 | -0.9288 | 0.0001 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70963572 | + | 11 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70963654 | + | 11 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 NA18951.hp1 |
HG03704.hp1 NA18951.hp1 |
ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70964438 | + | 12 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70964542 | + | 12 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70964736 | + | 13 | 0.9897 | 0.9896 | 0.9896 | 0.0001 | donor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70964865 | + | 13 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0002c0018t0002 | HG03704.hp1 | NA18951.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 70964958 | + | 14 | 0.9994 | 0.9994 | 0.9993 | 0.0001 | donor | a0002c0018t0002 | NA18951.hp1 | HG03704.hp1 | ATP6V1B1 | chr2 | 70930900 | 70970431 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70936095:splice 70936095:variant goto | c.118+23C>T | 1179593 | Benign | ATP6V1B1:525 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 8 | 22 | 25 | 152 | a0001a0002a0004a0005a0007others(3): Show | a0001c0001a0002c0003a0002c0006a0002c0008a0002c0010others(17): Show | a0001c0001t0006a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002others(20): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395a0001c0001t0006g0396a0001c0001t0006g0408others(147): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
MODIFIER | chr2 | C | T | TogoVar |
| 70943677:splice 70943677:variant goto | c.138C>Tp.Ser46Ser | 44225 | Benign | ATP6V1B1:525 ATP6V1B1-AS1:101927750 |
SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009968 MedGen:C0403554 OMIM:267300 Orphanet:93611 |
+ | 6 | 13 | 14 | 130 | a0001a0002a0003a0004a0008others(1): Show | a0001c0002a0001c0007a0001c0035a0002c0008a0002c0018others(8): Show | a0001c0002t0001a0001c0007t0001a0001c0007t0011a0001c0035t0004a0002c0008t0002others(9): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0014others(125): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 others(134): Show |
LOW | chr2 | C | T | TogoVar |
| 70935866:splice 70935866:variant goto | c.-89A>G | 369346 | Benign | ATP6V1B1:525 | . | MONDO:MONDO:0009968 MedGen:C0403554 OMIM:267300 Orphanet:93611|MedGen:C3661900 |
+ | 8 | 28 | 32 | 215 | a0002a0003a0004a0005a0007others(3): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(23): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(27): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285others(210): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(217): Show |
MODIFIER | chr2 | A | G | TogoVar |
| 70935956:splice 70935956:variant goto | c.2T>Cp.Met1? | 44228 | Benign | ATP6V1B1:525 | SO:0001582 initiator_codon_variant,SO:0001583 missense_variant |
MedGen:C3661900|MONDO:MONDO:0009968 MedGen:C0403554 OMIM:267300 Orphanet:93611|MedGen:CN169374 |
+ | 7 | 21 | 24 | 147 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285others(142): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(147): Show |
HIGH | chr2 | T | C | TogoVar |
| 70935643:splice 70935643:variant goto | c.-312C>T | 1286137 | Benign | ATP6V1B1:525 | . | MedGen:C3661900 | + | 7 | 21 | 24 | 142 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
MODIFIER | chr2 | C | T | TogoVar |
| 70935921:splice 70935921:variant goto | c.-34C>T | 336915 | Benign | ATP6V1B1:525 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0009968 MedGen:C0403554 OMIM:267300 Orphanet:93611|MedGen:CN169374 |
+ | 2 | 8 | 10 | 68 | a0002a0004 | a0002c0008a0002c0010a0002c0011a0002c0012a0002c0013others(3): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002a0002c0011t0007a0002c0012t0005others(5): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365a0002c0008t0002g0367a0002c0008t0002g0368others(63): Show | HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00741.hp2 others(64): Show |
MODIFIER | chr2 | C | T | TogoVar |
| 70935981:splice 70935981:variant goto | c.27T>Cp.Pro9Pro | 44227 | Benign | ATP6V1B1:525 | SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009968 MedGen:C0403554 OMIM:267300 Orphanet:93611 |
+ | 2 | 8 | 10 | 68 | a0002a0004 | a0002c0008a0002c0010a0002c0011a0002c0012a0002c0013others(3): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002a0002c0011t0007a0002c0012t0005others(5): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365a0002c0008t0002g0367a0002c0008t0002g0368others(63): Show | HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00741.hp2 others(64): Show |
LOW | chr2 | T | C | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:70936095
|
c.118+23C>T | Urate levels0.022269 | a0001a0002a0004a0005a0007others(3): Show | a0001c0001a0002c0003a0002c0006a0002c0008a0002c0010others(17): Show | a0001c0001t0006a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002others(20): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395a0001c0001t0006g0396a0001c0001t0006g0408others(147): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals/ | ATP6V1B1 | VAX2, ATP6V1B1 | rs759219-T | + | MODIFIER | chr2 | C | T |
|
chr2:70936095
|
c.118+23C>T | Urate levels0.0182 | a0001a0002a0004a0005a0007others(3): Show | a0001c0001a0002c0003a0002c0006a0002c0008a0002c0010others(17): Show | a0001c0001t0006a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002others(20): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395a0001c0001t0006g0396a0001c0001t0006g0408others(147): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
ATP6V1B1 | VAX2, ATP6V1B1 | rs759219-T | + | MODIFIER | chr2 | C | T |
|
chr2:70936095
|
c.118+23C>T | Serum urate levels0.0199 | a0001a0002a0004a0005a0007others(3): Show | a0001c0001a0002c0003a0002c0006a0002c0008a0002c0010others(17): Show | a0001c0001t0006a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002others(20): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395a0001c0001t0006g0396a0001c0001t0006g0408others(147): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | VAX2, ATP6V1B1 | rs759219-T | + | MODIFIER | chr2 | C | T | |
|
chr2:70936095
|
c.118+23C>T | Estimated glomerular filtration rate (creatinine)others(14): Show | a0001a0002a0004a0005a0007others(3): Show | a0001c0001a0002c0003a0002c0006a0002c0008a0002c0010others(17): Show | a0001c0001t0006a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002others(20): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395a0001c0001t0006g0396a0001c0001t0006g0408others(147): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
VAX2, ATP6V1B1 | rs759219-T | + | MODIFIER | chr2 | C | T | |
|
chr2:70935643
|
c.-312C>T | Serum urate levels0.0214 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
677,373 European ancestry individuals/ | VAX2 | rs17663700-T | + | MODIFIER | chr2 | C | T | |
|
chr2:70935956
|
c.2T>Cp.Met1? | Serum urate levels0.0187 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285others(142): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(147): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals, 677,373 E others(50): Show |
VAX2, ATP6V1B1 | rs11681642-T | + | HIGH | chr2 | T | C | |
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chr2:70935643
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c.-312C>T | Estimated glomerular filtration rate (creatinine)others(18): Show | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | VAX2 | rs17663700-T | + | MODIFIER | chr2 | C | T | |
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chr2:70935643
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c.-312C>T | Estimated glomerular filtration rate (creatinine, cystatin c)others(29): Show | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | VAX2 | rs17663700-T | + | MODIFIER | chr2 | C | T | |
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chr2:70935643
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c.-312C>T | Cystatin C levels in bottom 99% of individuals by creatinine levelsothers(37): Show | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Genetic analysis of elevated levels of creatinine others(85): Show |
417,815 European ancestry individuals/ | VAX2 | rs17663700-? | + | MODIFIER | chr2 | C | T | |
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chr2:70935643
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c.-312C>T |
Estimated glomerular filtration rate based on creatinine and cystatin C in bottom 99% of individuals others(88): Show |
a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Genetic analysis of elevated levels of creatinine others(85): Show |
417,815 European ancestry individuals/ | VAX2 | rs17663700-? | + | MODIFIER | chr2 | C | T | |
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chr2:70935643
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c.-312C>T | Estimated glomerular filtration rate (cystatin c)others(18): Show | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | VAX2 | rs17663700-T | + | MODIFIER | chr2 | C | T | |
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chr2:70935956
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c.2T>Cp.Met1? | Serum creatinine levels0.009 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285others(142): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(147): Show |
A cross-population atlas of genetic associations f others(24): Show |
344,104 European ancestry individuals, 150,266 Eas others(29): Show |
VAX2, ATP6V1B1 | rs11681642-C | + | HIGH | chr2 | T | C | |
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chr2:70935643
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c.-312C>T | Serum uric acid levels0.0124 | a0002a0004a0005a0007a0008others(2): Show | a0002c0003a0002c0006a0002c0008a0002c0010a0002c0011others(16): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003a0002c0008t0002a0002c0010t0002others(19): Show | a0002c0003t0001g0271a0002c0003t0001g0280a0002c0003t0001g0282a0002c0003t0001g0285a0002c0003t0001g0286others(137): Show | HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 others(141): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,836 European ancestry individuals, 129,405 Eas others(29): Show |
VAX2 | rs17663700-T | + | MODIFIER | chr2 | C | T |