rs121907980
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8.8 | Tay-Sachs disease (predicted) |
(A;G) | 3 | Carrier of a Tay-Sachs mutation |
(C;C) | 8.8 | Tay-Sachs disease (predicted) |
(C;G) | 3 | Carrier of a Tay-Sachs mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 72350517 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs121907980 |
dbSNP (classic) | rs121907980 |
ClinGen | rs121907980 |
ebi | rs121907980 |
HLI | rs121907980 |
Exac | rs121907980 |
Gnomad | rs121907980 |
Varsome | rs121907980 |
LitVar | rs121907980 |
Map | rs121907980 |
PheGenI | rs121907980 |
Biobank | rs121907980 |
1000 genomes | rs121907980 |
hgdp | rs121907980 |
ensembl | rs121907980 |
geneview | rs121907980 |
scholar | rs121907980 |
rs121907980 | |
pharmgkb | rs121907980 |
gwascentral | rs121907980 |
openSNP | rs121907980 |
23andMe | rs121907980 |
SNPshot | rs121907980 |
SNPdbe | rs121907980 |
MSV3d | rs121907980 |
GWAS Ctlg | rs121907980 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs121907980(A;A) Rs121907980(C;C) |
Alt | Rs121907980(A;A) Rs121907980(C;C) |
Reference | Rs121907980(G;G) |
Significance | Pathogenic |
Disease | Tay-Sachs disease Gm2-gangliosidosis |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-Sachs disease Gm2-gangliosidosis, late onset |
Reversed | 1 |
HGVS | NC_000015.9:g.72642858C>G; NC_000015.9:g.72642858C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000416460.1, RCV000004144.2, RCV000409276.1, |