rs121907965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Tay-Sachs mutation |
(G;G) | 8.8 | Tay-Sachs disease (predicted) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 72375972 |
Gene | HEXA, HEXA-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121907965 |
dbSNP (classic) | rs121907965 |
ClinGen | rs121907965 |
ebi | rs121907965 |
HLI | rs121907965 |
Exac | rs121907965 |
Gnomad | rs121907965 |
Varsome | rs121907965 |
LitVar | rs121907965 |
Map | rs121907965 |
PheGenI | rs121907965 |
Biobank | rs121907965 |
1000 genomes | rs121907965 |
hgdp | rs121907965 |
ensembl | rs121907965 |
geneview | rs121907965 |
scholar | rs121907965 |
rs121907965 | |
pharmgkb | rs121907965 |
gwascentral | rs121907965 |
openSNP | rs121907965 |
23andMe | rs121907965 |
SNPshot | rs121907965 |
SNPdbe | rs121907965 |
MSV3d | rs121907965 |
GWAS Ctlg | rs121907965 |
Max Magnitude | 8.8 |
23andMe name: i5004834
ClinVar | |
---|---|
Risk | rs121907965(C;C) Rs121907965(G;G) |
Alt | rs121907965(C;C) Rs121907965(G;G) |
Reference | Rs121907965(A;A) |
Significance | Pathogenic |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA-AS1 HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 1 |
HGVS | NC_000015.9:g.72668313T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004120.2, |