rs387906949
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 | 72375800 |
Gene | HEXA, HEXA-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906949 |
dbSNP (classic) | rs387906949 |
ClinGen | rs387906949 |
ebi | rs387906949 |
HLI | rs387906949 |
Exac | rs387906949 |
Gnomad | rs387906949 |
Varsome | rs387906949 |
LitVar | rs387906949 |
Map | rs387906949 |
PheGenI | rs387906949 |
Biobank | rs387906949 |
1000 genomes | rs387906949 |
hgdp | rs387906949 |
ensembl | rs387906949 |
geneview | rs387906949 |
scholar | rs387906949 |
rs387906949 | |
pharmgkb | rs387906949 |
gwascentral | rs387906949 |
openSNP | rs387906949 |
23andMe | rs387906949 |
SNPshot | rs387906949 |
SNPdbe | rs387906949 |
MSV3d | rs387906949 |
GWAS Ctlg | rs387906949 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs387906949(A;A) rs387906949(T;T) |
Alt | Rs387906949(A;A) rs387906949(T;T) |
Reference | Rs387906949(G;G) |
Significance | Pathogenic |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA-AS1 HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 1 |
HGVS | NC_000015.9:g.72668141C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023580.3, |