rs869320696
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869320696(C;C) |
Make rs869320696(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 138827609 |
Gene | CTNNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs869320696 |
dbSNP (classic) | rs869320696 |
ClinGen | rs869320696 |
ebi | rs869320696 |
HLI | rs869320696 |
Exac | rs869320696 |
Gnomad | rs869320696 |
Varsome | rs869320696 |
LitVar | rs869320696 |
Map | rs869320696 |
PheGenI | rs869320696 |
Biobank | rs869320696 |
1000 genomes | rs869320696 |
hgdp | rs869320696 |
ensembl | rs869320696 |
geneview | rs869320696 |
scholar | rs869320696 |
rs869320696 | |
pharmgkb | rs869320696 |
gwascentral | rs869320696 |
openSNP | rs869320696 |
23andMe | rs869320696 |
SNPshot | rs869320696 |
SNPdbe | rs869320696 |
MSV3d | rs869320696 |
GWAS Ctlg | rs869320696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320696(C;C) |
Alt | rs869320696(C;C) |
Reference | Rs869320696(T;T) |
Significance | Pathogenic |
Disease | Macular dystrophy |
Variation | info |
Gene | CTNNA1 |
CLNDBN | Macular dystrophy, patterned, 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.138163298T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210752.1, |