rs387906311
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 |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 72351132 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs387906311 |
dbSNP (classic) | rs387906311 |
ClinGen | rs387906311 |
ebi | rs387906311 |
HLI | rs387906311 |
Exac | rs387906311 |
Gnomad | rs387906311 |
Varsome | rs387906311 |
LitVar | rs387906311 |
Map | rs387906311 |
PheGenI | rs387906311 |
Biobank | rs387906311 |
1000 genomes | rs387906311 |
hgdp | rs387906311 |
ensembl | rs387906311 |
geneview | rs387906311 |
scholar | rs387906311 |
rs387906311 | |
pharmgkb | rs387906311 |
gwascentral | rs387906311 |
openSNP | rs387906311 |
23andMe | rs387906311 |
SNPshot | rs387906311 |
SNPdbe | rs387906311 |
MSV3d | rs387906311 |
GWAS Ctlg | rs387906311 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs387906311(A;A) |
Alt | Rs387906311(A;A) |
Reference | Rs387906311(G;G) |
Significance | Pathogenic |
Disease | Tay-sachs disease Tay-Sachs disease not provided |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-sachs disease, juvenile/adult Tay-Sachs disease not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.72643473C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004134.2, RCV000412214.1, RCV000432194.1, |