rs104893897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893897(G;T) |
Make rs104893897(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 151259833 |
Gene | GM2A |
is a | snp |
is | mentioned by |
dbSNP | rs104893897 |
dbSNP (classic) | rs104893897 |
ClinGen | rs104893897 |
ebi | rs104893897 |
HLI | rs104893897 |
Exac | rs104893897 |
Gnomad | rs104893897 |
Varsome | rs104893897 |
LitVar | rs104893897 |
Map | rs104893897 |
PheGenI | rs104893897 |
Biobank | rs104893897 |
1000 genomes | rs104893897 |
hgdp | rs104893897 |
ensembl | rs104893897 |
geneview | rs104893897 |
scholar | rs104893897 |
rs104893897 | |
pharmgkb | rs104893897 |
gwascentral | rs104893897 |
openSNP | rs104893897 |
23andMe | rs104893897 |
SNPshot | rs104893897 |
SNPdbe | rs104893897 |
MSV3d | rs104893897 |
GWAS Ctlg | rs104893897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893897(T;T) |
Alt | rs104893897(T;T) |
Reference | Rs104893897(G;G) |
Significance | Pathogenic |
Disease | Tay-Sachs disease |
Variation | info |
Gene | GM2A |
CLNDBN | Tay-Sachs disease, variant AB |
Reversed | 0 |
HGVS | NC_000005.9:g.150639394G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000425.3, |