rs121918567
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918567(G;T) |
Make rs121918567(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42704609 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918567 |
dbSNP (classic) | rs121918567 |
ClinGen | rs121918567 |
ebi | rs121918567 |
HLI | rs121918567 |
Exac | rs121918567 |
Gnomad | rs121918567 |
Varsome | rs121918567 |
LitVar | rs121918567 |
Map | rs121918567 |
PheGenI | rs121918567 |
Biobank | rs121918567 |
1000 genomes | rs121918567 |
hgdp | rs121918567 |
ensembl | rs121918567 |
geneview | rs121918567 |
scholar | rs121918567 |
rs121918567 | |
pharmgkb | rs121918567 |
gwascentral | rs121918567 |
openSNP | rs121918567 |
23andMe | rs121918567 |
SNPshot | rs121918567 |
SNPdbe | rs121918567 |
MSV3d | rs121918567 |
GWAS Ctlg | rs121918567 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918567(T;T) |
Alt | rs121918567(T;T) |
Reference | Rs121918567(G;G) |
Significance | Pathogenic |
Disease | Choroidal dystrophy not provided |
Variation | info |
Gene | PRPH2 |
CLNDBN | Choroidal dystrophy, central areolar 2 not provided |
Reversed | 1 |
HGVS | NC_000006.11:g.42672347C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014070.25, RCV000084990.1, |