rs61755793
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61755793(A;A) |
Make rs61755793(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42721820 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs61755793 |
dbSNP (classic) | rs61755793 |
ClinGen | rs61755793 |
ebi | rs61755793 |
HLI | rs61755793 |
Exac | rs61755793 |
Gnomad | rs61755793 |
Varsome | rs61755793 |
LitVar | rs61755793 |
Map | rs61755793 |
PheGenI | rs61755793 |
Biobank | rs61755793 |
1000 genomes | rs61755793 |
hgdp | rs61755793 |
ensembl | rs61755793 |
geneview | rs61755793 |
scholar | rs61755793 |
rs61755793 | |
pharmgkb | rs61755793 |
gwascentral | rs61755793 |
openSNP | rs61755793 |
23andMe | rs61755793 |
SNPshot | rs61755793 |
SNPdbe | rs61755793 |
MSV3d | rs61755793 |
GWAS Ctlg | rs61755793 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61755793(A;A) |
Alt | rs61755793(A;A) |
Reference | Rs61755793(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.42689558C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014053.19, RCV000084982.1, |