rs778155650
From SNPedia
Merged into | rs121907960 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs778155650(-;-) |
Make rs778155650(-;AAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 72349148 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs778155650 |
dbSNP (classic) | rs778155650 |
ClinGen | rs778155650 |
ebi | rs778155650 |
HLI | rs778155650 |
Exac | rs778155650 |
Gnomad | rs778155650 |
Varsome | rs778155650 |
LitVar | rs778155650 |
Map | rs778155650 |
PheGenI | rs778155650 |
Biobank | rs778155650 |
1000 genomes | rs778155650 |
hgdp | rs778155650 |
ensembl | rs778155650 |
geneview | rs778155650 |
scholar | rs778155650 |
rs778155650 | |
pharmgkb | rs778155650 |
gwascentral | rs778155650 |
openSNP | rs778155650 |
23andMe | rs778155650 |
SNPshot | rs778155650 |
SNPdbe | rs778155650 |
MSV3d | rs778155650 |
GWAS Ctlg | rs778155650 |
Status | Merged into rs121907960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs778155650(AAG;AAG) |
Significance | Other |
Disease | Tay-Sachs disease |
Variation | info |
Gene | HEXA |
CLNDBN | Tay-Sachs disease |
Reversed | 0 |
HGVS | NC_000015.9:g.72641489_72641491delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169148.2, |