| geneid | 18 |
|---|---|
| ensemblid | ENSG00000183044.12 |
| hgncid | 23 |
| symbol | ABAT |
| name | 4-aminobutyrate aminotransferase |
| refseq_nuc | NM_020686.6 |
| refseq_prot | NP_065737.2 |
| ensembl_nuc | ENST00000268251.13 |
| ensembl_prot | ENSP00000268251.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 8674617 |
| end | 8784570 |
| strand | + |
| ver | v1.2 |
| region | chr16:8674617-8784570 |
| region5000 | chr16:8669617-8789570 |
| regionname0 | ABAT_chr16_8674617_8784570 |
| regionname5000 | ABAT_chr16_8669617_8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 1/1 | a0002 | 500 | 162 | 60 | 21 | 59 | 5 | 15 | subcellular location copy fasta | chr16 | 8669617 | 8789570 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8674711 | + | 1 | -0.8181 | -0.7970 | -0.7827 | 0.0353 | acceptor | a0002 | HG02451.hp1 | HG04184.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8735699 | + | 2 | 0.9911 | 0.9881 | 0.9844 | 0.0067 | donor | a0002 | HG01891.hp1 | HG03579.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8735809 | + | 2 | -0.9962 | -0.9954 | -0.9932 | 0.0031 | acceptor | a0002 | HG01891.hp1 | HG02809.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746001 | + | 3 | 0.9985 | 0.9978 | 0.9976 | 0.0009 | donor | a0002 | HG03225.hp1 | HG02135.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746098 | + | 3 | -0.9991 | -0.9988 | -0.9987 | 0.0004 | acceptor | a0002 | HG02257.hp1 | HG03654.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8748108 | + | 4 | 0.9942 | 0.9912 | 0.9872 | 0.0070 | donor | a0002 | HG03098.hp2 NA18906.hp1 NA19030.hp1 |
HG03098.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8748137 | + | 4 | -0.9895 | -0.9876 | -0.9861 | 0.0034 | acceptor | a0002 | HG02258.hp1 | HG03195.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8750422 | + | 5 | 0.9960 | 0.9945 | 0.9934 | 0.0026 | donor | a0002 | HG02630.hp2 | HG02451.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8750539 | + | 5 | -0.9978 | -0.9970 | -0.9960 | 0.0018 | acceptor | a0002 | HG01993.hp2 | HG02615.hp2 HG02895.hp2 NA19240.hp2 homoSapiens_grch38.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8757757 | + | 6 | 0.9063 | 0.8878 | 0.6992 | 0.2071 | donor | a0002 | NA19007.hp1 | HG03098.hp1 NA18522.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8757806 | + | 6 | -0.9142 | -0.8984 | -0.7855 | 0.1287 | acceptor | a0002 | HG02615.hp2 HG02895.hp2 NA19240.hp2 homoSapiens_grch38.hp1 |
HG03098.hp1 NA18522.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8764069 | + | 7 | 0.9978 | 0.9976 | 0.9971 | 0.0007 | donor | a0002 | HG03579.hp1 | HG03195.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764149 | + | 7 | -0.9988 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0002 | HG00609.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 others(30): Show |
HG01433.hp1 HG02055.hp2 HG03195.hp1 HG03540.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8764738 | + | 8 | 0.9966 | 0.9915 | 0.9896 | 0.0070 | donor | a0002 | NA18960.hp1 | HG03540.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764830 | + | 8 | -0.9817 | -0.9693 | -0.9587 | 0.0229 | acceptor | a0002 | HG02615.hp2 HG02895.hp2 NA19240.hp2 homoSapiens_grch38.hp1 |
HG03195.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8766208 | + | 9 | 0.9945 | 0.9937 | 0.9893 | 0.0053 | donor | a0002 | HG01515.hp2 | HG02004.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8766270 | + | 9 | -0.9980 | -0.9977 | -0.9974 | 0.0006 | acceptor | a0002 | HG02280.hp1 | HG02004.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768193 | + | 10 | 0.9955 | 0.9924 | 0.9920 | 0.0034 | donor | a0002 | HG02280.hp1 | HG03225.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768256 | + | 10 | -0.9849 | -0.9810 | -0.9796 | 0.0052 | acceptor | a0002 | HG02132.hp1 HG04184.hp2 |
HG04204.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768825 | + | 11 | 0.9970 | 0.9964 | 0.9960 | 0.0010 | donor | a0002 | homoSapiens_grch38.hp1 | HG03139.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768973 | + | 11 | -0.9991 | -0.9990 | -0.9988 | 0.0003 | acceptor | a0002 | NA20905.hp2 | HG03239.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8772780 | + | 12 | 0.9971 | 0.9946 | 0.9899 | 0.0072 | donor | a0002 | NA19087.hp2 | HG01993.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772917 | + | 12 | -0.9986 | -0.9982 | -0.9977 | 0.0009 | acceptor | a0002 | NA18906.hp1 | HG02055.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8774890 | + | 13 | 0.9962 | 0.9946 | 0.9940 | 0.0021 | donor | a0002 | HG02055.hp2 | HG03041.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8775057 | + | 13 | -0.9979 | -0.9976 | -0.9974 | 0.0005 | acceptor | a0002 | HG00609.hp2 | NA18971.hp2 NA19066.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8776344 | + | 14 | 0.9970 | 0.9967 | 0.9961 | 0.0009 | donor | a0002 | NA19055.hp2 homoSapiens_chm13v2.hp1 |
HG02615.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8776490 | + | 14 | -0.9992 | -0.9991 | -0.9990 | 0.0002 | acceptor | a0002 | HG02451.hp2 | HG03130.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8779479 | + | 15 | 0.9881 | 0.9818 | 0.9725 | 0.0156 | donor | a0002 | NA18906.hp1 | HG03579.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8779590 | + | 15 | -0.9895 | -0.9846 | -0.9822 | 0.0073 | acceptor | a0002 | HG03579.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8781309 | + | 16 | 0.5594 | 0.5277 | 0.4546 | 0.1049 | donor | a0002 | HG02257.hp1 HG02486.hp2 HG02622.hp2 |
NA18977.hp2 NA19056.hp2 NA19060.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8768735:splice 8768735:variant goto | c.668-90T>C | 1185364 | Benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 6 | 23 | 99 | 361 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(94): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(356): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(356): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8783363:splice 8783363:variant goto | c.*1933T>C | 321134 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 5 | 21 | 85 | 338 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(80): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(333): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(333): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8764723:splice 8764723:variant goto | c.448-15T>A | 321071 | Benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 6 | 18 | 78 | 294 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(73): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(289): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(289): Show |
MODIFIER | chr16 | T | A | TogoVar |
| 8781189:splice 8781189:variant goto | c.1382-95_1382-92delGATG | 1185367 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 16 | 51 | 226 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0001c0023others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(46): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(221): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(221): Show |
MODIFIER | chr16 | TGATG | T | TogoVar |
| 8782420:splice 8782420:variant goto | c.*990G>C | 321109 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 14 | 55 | 230 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0022others(50): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(225): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(225): Show |
MODIFIER | chr16 | G | C | TogoVar |
| 8783544:splice 8783544:variant goto | c.*2114G>A | 321139 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 14 | 54 | 229 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0022others(49): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(224): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(224): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 8783997:splice 8783997:variant goto | c.*2567C>G | 321145 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 4 | 14 | 53 | 228 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0022others(48): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(223): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(223): Show |
MODIFIER | chr16 | C | G | TogoVar |
| 8782561:splice 8782561:variant goto | c.*1131G>A | 321111 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 14 | 45 | 215 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0022others(40): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(210): Show | HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(210): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 8781672:splice 8781672:variant goto | c.*242G>T | 321094 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 10 | 32 | 136 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0039others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(131): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(131): Show |
MODIFIER | chr16 | G | T | TogoVar |
| 8783023:splice 8783023:variant goto | c.*1593T>A | 321126 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 11 | 33 | 138 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0039others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(133): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(133): Show |
MODIFIER | chr16 | T | A | TogoVar |
| 8782345:splice 8782345:variant goto | c.*915C>G | 321107 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 4 | 11 | 34 | 139 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0040others(29): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(134): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(134): Show |
MODIFIER | chr16 | C | G | TogoVar |
| 8781942:splice 8781942:variant goto | c.*512G>A | 321104 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 4 | 10 | 30 | 134 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0039a0001c0001t0040others(25): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(129): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(129): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 8735858:splice 8735858:variant goto | c.70+49T>C | 1185352 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 5 | 16 | 52 | 112 | a0001a0002a0003a0004a0006 | a0001c0001a0001c0003a0001c0011a0001c0023a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(47): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0076others(107): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp2 others(107): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8757910:splice 8757910:variant goto | c.366+104C>T | 1185366 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 4 | 16 | 56 | 201 | a0001a0002a0003a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(51): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0076others(196): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(196): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8768355:splice 8768355:variant goto | c.667+99C>T | 1185353 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 6 | 20 | 91 | 311 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(86): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0076others(306): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(306): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8768375:splice 8768375:variant goto | c.667+120delA | 1185363 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 6 | 20 | 91 | 311 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(86): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0076others(306): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(306): Show |
MODIFIER | chr16 | CA | C | TogoVar |
| 8779636:splice 8779636:variant goto | c.1381+46C>T | 1185365 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 5 | 20 | 61 | 215 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0013a0001c0022a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(56): Show | a0001c0001t0001g0038a0001c0001t0001g0146a0001c0001t0001g0201a0001c0001t0001g0280a0001c0001t0001g0283others(210): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8779599:splice 8779599:variant goto | c.1381+9T>C | 321090 | Benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 16 | 43 | 122 | a0001a0002a0003a0005 | a0001c0001a0001c0003a0001c0013a0001c0022a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(38): Show | a0001c0001t0001g0038a0001c0001t0001g0146a0001c0001t0001g0201a0001c0001t0001g0280a0001c0001t0001g0283others(117): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8764843:splice 8764843:variant goto | c.540+34_540+35dupCA | 321072 | Benign/Likely_benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 5 | 17 | 46 | a0001a0002 | a0001c0001a0001c0003a0002c0002a0002c0004a0002c0018 | a0001c0001t0001a0001c0001t0003a0001c0003t0003a0002c0002t0001a0002c0002t0002others(12): Show | a0001c0001t0001g0272a0001c0001t0003g0071a0001c0003t0003g0083a0001c0003t0003g0220a0001c0003t0003g0355others(41): Show | HG00609.hp2 HG00621.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp2 others(41): Show |
MODIFIER | chr16 | G | GCA | TogoVar |
| 8781906:splice 8781906:variant goto | c.*476T>C | 321101 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 5 | 19 | 46 | 133 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008a0001c0001t0009others(41): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0057others(128): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(128): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8782001:splice 8782001:variant goto | c.*571A>C | 321105 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 5 | 19 | 45 | 132 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008a0001c0001t0009others(40): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0057others(127): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
MODIFIER | chr16 | A | C | TogoVar |
| 8782004:splice 8782004:variant goto | c.*574A>G | 321106 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 5 | 19 | 45 | 132 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008a0001c0001t0009others(40): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0057others(127): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
MODIFIER | chr16 | A | G | TogoVar |
| 8781688:splice 8781688:variant goto | c.*258G>C | 321096 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 17 | 31 | 108 | a0001a0002a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009a0001c0001t0011a0001c0001t0028others(26): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0057others(103): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(103): Show |
MODIFIER | chr16 | G | C | TogoVar |
| 8782835:splice 8782835:variant goto | c.*1405C>T | 321118 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 4 | 16 | 26 | 96 | a0001a0002a0003a0005 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0022others(11): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0021a0001c0001t0028a0001c0001t0042others(21): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0057others(91): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8764843:splice 8764843:variant goto | c.540+32_540+35dupCACA | 321073 | Conflicting_classifications_of_pathogenicity | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 6 | 11 | 16 | a0001a0002 | a0001c0001a0001c0003a0001c0021a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0021t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0002g0050a0001c0003t0001g0252a0001c0021t0001g0111a0002c0002t0001g0021a0002c0002t0001g0140others(11): Show | HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01243.hp1 HG02074.hp2 others(11): Show |
MODIFIER | chr16 | G | GCACA | TogoVar |
| 8782988:splice 8782988:variant goto | c.*1558G>A | 321124 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 10 | 14 | 80 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(9): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(75): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(75): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 8783005:splice 8783005:variant goto | c.*1575A>G | 321125 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 10 | 14 | 80 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(9): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(75): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(75): Show |
MODIFIER | chr16 | A | G | TogoVar |
| 8781674:splice 8781674:variant goto | c.*244C>A | 321095 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 10 | 13 | 79 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(8): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(74): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(74): Show |
MODIFIER | chr16 | C | A | TogoVar |
| 8783734:splice 8783734:variant goto | c.*2304T>A | 321142 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 2 | 10 | 13 | 79 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(8): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(74): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(74): Show |
MODIFIER | chr16 | T | A | TogoVar |
| 8783975:splice 8783975:variant goto | c.*2545C>T | 321144 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 2 | 10 | 12 | 78 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0025a0001c0003t0003a0001c0023t0024others(7): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(73): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(73): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8782640:splice 8782640:variant goto | c.*1210T>C | 321115 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 5 | 6 | 24 | a0001a0002 | a0001c0001a0001c0003a0002c0002a0002c0004a0002c0005 | a0001c0001t0004a0001c0001t0039a0001c0003t0004a0002c0002t0004a0002c0004t0004others(1): Show | a0001c0001t0004g0080a0001c0001t0004g0096a0001c0001t0004g0109a0001c0001t0004g0117a0001c0001t0004g0273others(19): Show | HG01123.hp1 HG01255.hp1 HG01516.hp1 HG02040.hp2 HG02071.hp2 others(19): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 8783191:splice 8783191:variant goto | c.*1773_*1776delTTCA | 321128 | Likely_benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 8 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0303a0001c0001t0006g0312a0002c0002t0006g0043a0002c0002t0006g0169a0002c0002t0006g0244others(3): Show | HG01192.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 others(3): Show |
MODIFIER | chr16 | ATCAT | A | TogoVar |
| 8784536:splice 8784536:variant goto | c.*3110_*3113delCAGT | 321154 | Likely_benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 3 | 3 | 9 | a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0002c0002t0006a0002c0005t0041 | a0001c0001t0006g0303a0001c0001t0006g0312a0002c0002t0006g0043a0002c0002t0006g0169a0002c0002t0006g0244others(4): Show | HG01192.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 others(4): Show |
MODIFIER | chr16 | TAGTC | T | TogoVar |
| 8781728:splice 8781728:variant goto | c.*298C>T | 321098 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 3 | 7 | 11 | 15 | a0001a0002a0003 | a0001c0001a0001c0003a0002c0002a0002c0004a0002c0005others(2): Show | a0001c0001t0008a0001c0001t0021a0001c0003t0035a0002c0002t0008a0002c0002t0010others(6): Show | a0001c0001t0008g0040a0001c0001t0021g0327a0001c0003t0035g0266a0002c0002t0008g0106a0002c0002t0008g0168others(10): Show | HG01167.hp2 HG01169.hp1 HG01346.hp1 HG02280.hp1 HG02559.hp1 others(10): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 8782931:splice 8782931:variant goto | c.*1501A>G | 321121 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 6 | 6 | 8 | a0001a0002 | a0001c0001a0001c0003a0002c0002a0002c0004a0002c0005others(1): Show | a0001c0001t0008a0001c0003t0035a0002c0002t0008a0002c0004t0008a0002c0005t0008others(1): Show | a0001c0001t0008g0040a0001c0003t0035g0266a0002c0002t0008g0106a0002c0002t0008g0168a0002c0004t0008g0176others(3): Show | HG02280.hp1 HG02559.hp1 HG02683.hp1 HG03490.hp1 HG03492.hp1 others(3): Show |
MODIFIER | chr16 | A | G | TogoVar |
| 8781462:splice 8781462:variant goto | c.*32G>A | 887494 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 3 | 5 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009a0002c0002t0019 | a0001c0001t0009g0284a0002c0002t0009g0086a0002c0002t0009g0192a0002c0002t0009g0193a0002c0002t0019g0002 | HG03486.hp1 NA18975.hp2 NA18977.hp2 NA19056.hp2 NA19060.hp1 |
MODIFIER | chr16 | G | A | TogoVar |
| 8781595:splice 8781595:variant goto | c.*165A>T | 321093 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 3 | 4 | 5 | a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0011a0001c0001t0047a0002c0002t0011a0002c0007t0011 | a0001c0001t0011g0238a0001c0001t0011g0331a0001c0001t0047g0314a0002c0002t0011g0313a0002c0007t0011g0004 | HG02717.hp2 HG02723.hp1 HG02922.hp1 HG03471.hp1 NA18906.hp2 |
MODIFIER | chr16 | A | T | TogoVar |
| 8784174:splice 8784174:variant goto | c.*2744G>C | 885604 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 3 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0012 | a0001c0001t0012g0251a0002c0002t0012g0162a0002c0002t0012g0259 | HG01099.hp2 HG01123.hp2 HG02148.hp2 |
MODIFIER | chr16 | G | C | TogoVar |
| 8781634:splice 8781634:variant goto | c.*204A>G | 887484 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 3 | 5 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0012a0002c0002t0017 | a0001c0001t0012g0251a0002c0002t0012g0162a0002c0002t0012g0259a0002c0002t0017g0055a0002c0002t0017g0188 | HG00438.hp1 HG01099.hp2 HG01123.hp2 HG02148.hp2 NA18963.hp2 |
MODIFIER | chr16 | A | G | TogoVar |
| 8779475:splice 8779475:variant goto | c.1270-4A>G | 321088 | Benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 4 | 8 | 8 | a0001a0002 | a0001c0001a0002c0002a0002c0004a0002c0018 | a0001c0001t0021a0002c0002t0019a0002c0002t0020a0002c0002t0032a0002c0002t0034others(3): Show | a0001c0001t0021g0327a0002c0002t0019g0002a0002c0002t0020g0242a0002c0002t0032g0157a0002c0002t0034g0046others(3): Show | HG01106.hp2 HG01346.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp1 others(3): Show |
LOW | chr16 | A | G | TogoVar |
| 8781529:splice 8781529:variant goto | c.*99G>C | 321092 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 2 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0020 | a0001c0001t0021g0327a0002c0002t0020g0242 | HG01346.hp1 HG02630.hp1 |
MODIFIER | chr16 | G | C | TogoVar |
| 8772933:splice 8772933:variant goto | c.954+16C>T | 445320 | Benign/Likely_benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 3 | a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0028a0002c0005t0008 | a0001c0001t0028g0061a0002c0005t0008g0016a0002c0005t0008g0017 | HG03490.hp1 HG03492.hp1 HG04199.hp2 |
MODIFIER | chr16 | C | T | TogoVar |
| 8774919:splice 8774919:variant goto | c.984C>Ap.Val328Val | 321082 | Benign | ABAT:18 | SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 8 | 28 | 116 | a0001a0002 | a0001c0003a0001c0021a0001c0023a0002c0004a0002c0005others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003a0001c0003t0004a0001c0003t0005others(23): Show | a0001c0003t0001g0035a0001c0003t0001g0089a0001c0003t0001g0092a0001c0003t0001g0093a0001c0003t0001g0097others(111): Show | HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(111): Show |
LOW | chr16 | C | A | TogoVar |
| 8784416:splice 8784416:variant goto | c.*2986T>C | 321150 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 2 | a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0015a0002c0005t0015 | a0001c0003t0015g0130a0002c0005t0015g0084 | NA18747.hp1 NA19057.hp1 |
MODIFIER | chr16 | T | C | TogoVar |
| 8750532:splice 8750532:variant goto | c.309C>Tp.Val103Val | 320845 | Benign | ABAT:18 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 3 | 4 | 15 | 38 | a0001a0002a0005 | a0001c0013a0002c0005a0002c0006a0005c0019 | a0001c0013t0002a0002c0005t0001a0002c0005t0003a0002c0005t0004a0002c0005t0008others(10): Show | a0001c0013t0002g0203a0001c0013t0002g0204a0002c0005t0001g0022a0002c0005t0001g0062a0002c0005t0001g0214others(33): Show | HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 others(33): Show |
LOW | chr16 | C | T | TogoVar |
| 8768841:splice 8768841:variant goto | c.684G>Ap.Thr228Thr | 193917 | Benign | ABAT:18 | SO:0001819 synonymous_variant |
MedGen:CN169374|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 2 | 2 | 2 | 2 | a0001a0002 | a0001c0021a0002c0016 | a0001c0021t0001a0002c0016t0003 | a0001c0021t0001g0111a0002c0016t0003g0235 | HG02074.hp2 HG03239.hp1 |
LOW | chr16 | G | A | TogoVar |
| 8757817:splice 8757817:variant goto | c.366+11G>T | 321069 | Benign | ABAT:18 | SO:0001627 intron_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0243 | HG01243.hp2 | MODIFIER | chr16 | G | T | TogoVar |
| 8784459:splice 8784459:variant goto | c.*3039delA | 321152 | Likely_benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 4 | 6 | 10 | a0002 | a0002c0002a0002c0004a0002c0006a0002c0007 | a0002c0002t0007a0002c0002t0019a0002c0002t0032a0002c0004t0007a0002c0006t0007others(1): Show | a0002c0002t0007g0007a0002c0002t0007g0009a0002c0002t0007g0026a0002c0002t0007g0275a0002c0002t0019g0002others(5): Show | HG01106.hp2 HG02145.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 others(5): Show |
MODIFIER | chr16 | TA | T | TogoVar |
| 8782913:splice 8782913:variant goto | c.*1483G>T | 321120 | Uncertain_significance | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 2 | 2 | 2 | a0002 | a0002c0002a0002c0005 | a0002c0002t0016a0002c0005t0016 | a0002c0002t0016g0143a0002c0005t0016g0072 | NA18951.hp2 NA18998.hp1 |
MODIFIER | chr16 | G | T | TogoVar |
| 8781748:splice 8781748:variant goto | c.*318T>C | 321099 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 2 | 2 | a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0034 | a0002c0002t0020g0242a0002c0002t0034g0046 | HG02630.hp1 NA19030.hp1 |
MODIFIER | chr16 | T | C | TogoVar |
| 8783249:splice 8783249:variant goto | c.*1819G>A | 321130 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 2 | 2 | a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0034 | a0002c0002t0020g0242a0002c0002t0034g0046 | HG02630.hp1 NA19030.hp1 |
MODIFIER | chr16 | G | A | TogoVar |
| 8783352:splice 8783352:variant goto | c.*1922G>A | 321133 | Uncertain_significance | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0332 | HG02965.hp2 | MODIFIER | chr16 | G | A | TogoVar |
| 8782846:splice 8782846:variant goto | c.*1416T>A | 321119 | Uncertain_significance | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0178 | HG01243.hp1 | MODIFIER | chr16 | T | A | TogoVar |
| 8782763:splice 8782763:variant goto | c.*1333A>G | 321117 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0157 | HG01106.hp2 | MODIFIER | chr16 | A | G | TogoVar |
| 8768980:splice 8768980:variant goto | c.816+7C>A | 193919 | Benign | ABAT:18 | SO:0001627 intron_variant |
MedGen:CN169374|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0348 | HG03540.hp1 | LOW | chr16 | C | A | TogoVar |
| 8757816:splice 8757816:variant goto | c.366+10G>A | 529793 | Benign | ABAT:18 | SO:0001627 intron_variant |
.|MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 2 | 2 | a0002 | a0002c0006 | a0002c0006t0007a0002c0006t0030 | a0002c0006t0007g0228a0002c0006t0030g0008 | HG03098.hp1 NA18522.hp1 |
MODIFIER | chr16 | G | A | TogoVar |
| 8776368:splice 8776368:variant goto | c.1147C>Tp.Leu383Leu | 321085 | Benign | ABAT:18 | SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 7 | 10 | a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0007a0002c0007t0008a0002c0007t0011a0002c0007t0013others(2): Show | a0002c0007t0003g0005a0002c0007t0007g0247a0002c0007t0007g0341a0002c0007t0008g0025a0002c0007t0011g0004others(5): Show | HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 others(5): Show |
LOW | chr16 | C | T | TogoVar |
| 8746059:splice 8746059:variant goto | c.129G>Ap.Gly43Gly | 320840 | Benign | ABAT:18 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|MedGen:C3661900 |
+ | 1 | 4 | 11 | 18 | a0002 | a0002c0007a0002c0008a0002c0012a0002c0015 | a0002c0007t0003a0002c0007t0007a0002c0007t0008a0002c0007t0011a0002c0007t0013others(6): Show | a0002c0007t0003g0005a0002c0007t0007g0247a0002c0007t0007g0341a0002c0007t0008g0025a0002c0007t0011g0004others(13): Show | HG01891.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 others(13): Show |
LOW | chr16 | G | A | TogoVar |
| 8782563:splice 8782563:variant goto | c.*1133G>A | 321112 | Benign | ABAT:18 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0027a0002c0007t0013g0031 | HG02630.hp2 HG02922.hp2 |
MODIFIER | chr16 | G | A | TogoVar |
| 8781379:splice 8781379:variant goto | c.1452C>Tp.His484His | 321091 | Benign | ABAT:18 | SO:0001583 missense_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066|. |
+ | 1 | 3 | 3 | 7 | a0002 | a0002c0009a0002c0012a0002c0017 | a0002c0009t0002a0002c0012t0002a0002c0017t0002 | a0002c0009t0002g0003a0002c0009t0002g0316a0002c0009t0002g0320a0002c0009t0002g0340a0002c0012t0002g0339others(2): Show | HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02976.hp2 others(2): Show |
LOW | chr16 | C | T | TogoVar |
| 8779487:splice 8779487:variant goto | c.1278C>Tp.Tyr426Tyr | 1617859 | Benign | ABAT:18 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MONDO:MONDO:0013166 MedGen:C0342708 OMIM:613163 Orphanet:2066 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0018 | a0002c0018t0046 | a0002c0018t0046g0336 | HG03579.hp1 | LOW | chr16 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8777224
|
c.1269+734T>A | Anger0.26 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(80): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076others(311): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
Genome-wide association study of proneness to ange others(2): Show |
8,747 European ancestry individuals/ | ABAT | ABAT | rs1299926-T | + | MODIFIER | chr16 | T | A |
|
chr16:8781672
|
c.*242G>T | Alzheimer's disease or gastroesophageal reflux diseaseothers(14): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0039others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(131): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(131): Show |
A large-scale genome-wide cross-trait analysis rev others(98): Show |
71,880 European ancestry Alzheimer's disease or AD others(95): Show |
ABAT, TMEM186 | rs2270288-T | + | MODIFIER | chr16 | G | T | |
|
chr16:8705306
|
c.-41-30393G>A |
Protein quantitative trait loci (liver)0 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0017a0004c0014 | a0001c0001t0003a0001c0001t0008a0002c0002t0002a0002c0002t0003a0002c0002t0006others(3): Show | a0001c0001t0003g0042a0001c0001t0008g0040a0002c0002t0002g0006a0002c0002t0003g0309a0002c0002t0006g0043others(3): Show | HG01192.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02723.hp2 others(3): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ABAT | rs59791969-A | + | MODIFIER | chr16 | G | A |
|
chr16:8777531
|
c.1269+1041T>C | Response to opioid analgesics in cancer (pain decrease)others(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(76): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0081others(253): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
Gamma-aminobutyric acid transaminase genetic polym others(120): Show |
71 Japanese ancestry individuals/ | ABAT | ABAT | rs1641025-T | + | MODIFIER | chr16 | T | C |
|
chr16:8740228
|
c.70+4419G>A |
Bronchopulmonary dysplasia in preterm infants others(13): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004a0002c0006a0002c0016others(2): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002a0002c0002t0003a0002c0002t0004others(18): Show | a0001c0003t0003g0083a0001c0003t0003g0357a0002c0002t0001g0021a0002c0002t0001g0140a0002c0002t0001g0170others(48): Show | HG00140.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 others(48): Show |
Ancestry and Genetic Associations with Bronchopulm others(35): Show |
136 European ancestry cases, 82 African American c others(107): Show |
ABAT | ABAT | rs75055007-? | + | MODIFIER | chr16 | G | A |
|
chr16:8747452
|
c.169-656G>A | Phosphomannomutase 2 levels0.646 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(89): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(340): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABAT | rs1731033-A | + | MODIFIER | chr16 | G | A | |
|
chr16:8783734
|
c.*2304T>A | Height0.0048 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(8): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(74): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(74): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABAT, TMEM186 | rs9456-A | + | MODIFIER | chr16 | T | A | |
|
chr16:8670571
|
c.-4182T>C |
Gut microbiome abundance (class Megasphaera micronuciformis (at 1 year) x Household furry pet dog (1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0011others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058a0001c0001t0001g0239a0001c0001t0001g0246others(77): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00733.hp1 others(77): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(238): Show |
METTL22 - ABAT | rs1345300-C | + | MODIFIER | chr16 | T | C |