rs766138785
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766138785(-;-) |
Make rs766138785(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 72347709 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs766138785 |
dbSNP (classic) | rs766138785 |
ClinGen | rs766138785 |
ebi | rs766138785 |
HLI | rs766138785 |
Exac | rs766138785 |
Gnomad | rs766138785 |
Varsome | rs766138785 |
LitVar | rs766138785 |
Map | rs766138785 |
PheGenI | rs766138785 |
Biobank | rs766138785 |
1000 genomes | rs766138785 |
hgdp | rs766138785 |
ensembl | rs766138785 |
geneview | rs766138785 |
scholar | rs766138785 |
rs766138785 | |
pharmgkb | rs766138785 |
gwascentral | rs766138785 |
openSNP | rs766138785 |
23andMe | rs766138785 |
SNPshot | rs766138785 |
SNPdbe | rs766138785 |
MSV3d | rs766138785 |
GWAS Ctlg | rs766138785 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766138785(-;-) |
Alt | rs766138785(-;-) |
Reference | Rs766138785(C;C) |
Significance | Probable-Pathogenic |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 0 |
HGVS | NC_000015.9:g.72640050delC |
CLNSRC | |
CLNACC | RCV000169594.1, |