rs121907960
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8.8 | Tay-Sachs disease (predicted) |
(-;TTC) | 3 | Carrier of a Tay-Sachs mutation |
(CTT;CTT) | 0 | common in clinvar |
(TCT;TCT) | 0 | common in clinvar |
(TTC;TTC) | 0 | common in complete genomics |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 72349153 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs121907960 |
dbSNP (classic) | rs121907960 |
ClinGen | rs121907960 |
ebi | rs121907960 |
HLI | rs121907960 |
Exac | rs121907960 |
Gnomad | rs121907960 |
Varsome | rs121907960 |
LitVar | rs121907960 |
Map | rs121907960 |
PheGenI | rs121907960 |
Biobank | rs121907960 |
1000 genomes | rs121907960 |
hgdp | rs121907960 |
ensembl | rs121907960 |
geneview | rs121907960 |
scholar | rs121907960 |
rs121907960 | |
pharmgkb | rs121907960 |
gwascentral | rs121907960 |
openSNP | rs121907960 |
23andMe | rs121907960 |
SNPshot | rs121907960 |
SNPdbe | rs121907960 |
MSV3d | rs121907960 |
GWAS Ctlg | rs121907960 |
Merged from | Rs778155650 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs121907960(CTT;CTT) Rs121907960(-;-) |
Alt | Rs121907960(CTT;CTT) Rs121907960(-;-) |
Reference | Rs121907960(TTC;TTC) |
Significance | Other |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 1 |
HGVS | NC_000015.9:g.72641489_72641491delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169148.2, |