rs61755792
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61755792(C;T) |
Make rs61755792(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42721821 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs61755792 |
dbSNP (classic) | rs61755792 |
ClinGen | rs61755792 |
ebi | rs61755792 |
HLI | rs61755792 |
Exac | rs61755792 |
Gnomad | rs61755792 |
Varsome | rs61755792 |
LitVar | rs61755792 |
Map | rs61755792 |
PheGenI | rs61755792 |
Biobank | rs61755792 |
1000 genomes | rs61755792 |
hgdp | rs61755792 |
ensembl | rs61755792 |
geneview | rs61755792 |
scholar | rs61755792 |
rs61755792 | |
pharmgkb | rs61755792 |
gwascentral | rs61755792 |
openSNP | rs61755792 |
23andMe | rs61755792 |
SNPshot | rs61755792 |
SNPdbe | rs61755792 |
MSV3d | rs61755792 |
GWAS Ctlg | rs61755792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61755792(G;G) rs61755792(T;T) |
Alt | rs61755792(G;G) rs61755792(T;T) |
Reference | Rs61755792(C;C) |
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.42689559G>A; NC_000006.11:g.42689559G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014056.25, RCV000084981.1, RCV000084980.1, |