rs777042785
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs777042785(-;-) |
Make rs777042785(-;TA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 72346549 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs777042785 |
dbSNP (classic) | rs777042785 |
ClinGen | rs777042785 |
ebi | rs777042785 |
HLI | rs777042785 |
Exac | rs777042785 |
Gnomad | rs777042785 |
Varsome | rs777042785 |
LitVar | rs777042785 |
Map | rs777042785 |
PheGenI | rs777042785 |
Biobank | rs777042785 |
1000 genomes | rs777042785 |
hgdp | rs777042785 |
ensembl | rs777042785 |
geneview | rs777042785 |
scholar | rs777042785 |
rs777042785 | |
pharmgkb | rs777042785 |
gwascentral | rs777042785 |
openSNP | rs777042785 |
23andMe | rs777042785 |
SNPshot | rs777042785 |
SNPdbe | rs777042785 |
MSV3d | rs777042785 |
GWAS Ctlg | rs777042785 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777042785(-;-) |
Alt | rs777042785(-;-) |
Reference | Rs777042785(TA;TA) |
Significance | Probable-Pathogenic |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 0 |
HGVS | NC_000015.9:g.72638890_72638891delTA |
CLNSRC | |
CLNACC | RCV000169438.1, |