rs397514681
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514681(C;T) |
Make rs397514681(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233335029 |
Gene | SAG |
is a | snp |
is | mentioned by |
dbSNP | rs397514681 |
dbSNP (classic) | rs397514681 |
ClinGen | rs397514681 |
ebi | rs397514681 |
HLI | rs397514681 |
Exac | rs397514681 |
Gnomad | rs397514681 |
Varsome | rs397514681 |
LitVar | rs397514681 |
Map | rs397514681 |
PheGenI | rs397514681 |
Biobank | rs397514681 |
1000 genomes | rs397514681 |
hgdp | rs397514681 |
ensembl | rs397514681 |
geneview | rs397514681 |
scholar | rs397514681 |
rs397514681 | |
pharmgkb | rs397514681 |
gwascentral | rs397514681 |
openSNP | rs397514681 |
23andMe | rs397514681 |
SNPshot | rs397514681 |
SNPdbe | rs397514681 |
MSV3d | rs397514681 |
GWAS Ctlg | rs397514681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514681(G;G) rs397514681(T;T) |
Alt | rs397514681(G;G) rs397514681(T;T) |
Reference | Rs397514681(C;C) |
Significance | Pathogenic |
Disease | Oguchi's disease |
Variation | info |
Gene | SAG |
CLNDBN | Oguchi's disease |
Reversed | 0 |
HGVS | NC_000002.11:g.234243675C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034823.18, |