rs869320751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320751(-;G) |
Make rs869320751(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 161791408 |
Gene | ATF6 |
is a | snp |
is | mentioned by |
dbSNP | rs869320751 |
dbSNP (classic) | rs869320751 |
ClinGen | rs869320751 |
ebi | rs869320751 |
HLI | rs869320751 |
Exac | rs869320751 |
Gnomad | rs869320751 |
Varsome | rs869320751 |
LitVar | rs869320751 |
Map | rs869320751 |
PheGenI | rs869320751 |
Biobank | rs869320751 |
1000 genomes | rs869320751 |
hgdp | rs869320751 |
ensembl | rs869320751 |
geneview | rs869320751 |
scholar | rs869320751 |
rs869320751 | |
pharmgkb | rs869320751 |
gwascentral | rs869320751 |
openSNP | rs869320751 |
23andMe | rs869320751 |
SNPshot | rs869320751 |
SNPdbe | rs869320751 |
MSV3d | rs869320751 |
GWAS Ctlg | rs869320751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320751(G;G) |
Alt | rs869320751(G;G) |
Reference | Rs869320751(-;-) |
Significance | Pathogenic |
Disease | Achromatopsia 7 |
Variation | info |
Gene | ATF6 |
CLNDBN | Achromatopsia 7 |
Reversed | 0 |
HGVS | NC_000001.10:g.161761198dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190367.2, |