rs2269736
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs2269736(A;A) |
Make rs2269736(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129528683 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs2269736 |
dbSNP (classic) | rs2269736 |
ClinGen | rs2269736 |
ebi | rs2269736 |
HLI | rs2269736 |
Exac | rs2269736 |
Gnomad | rs2269736 |
Varsome | rs2269736 |
LitVar | rs2269736 |
Map | rs2269736 |
PheGenI | rs2269736 |
Biobank | rs2269736 |
1000 genomes | rs2269736 |
hgdp | rs2269736 |
ensembl | rs2269736 |
geneview | rs2269736 |
scholar | rs2269736 |
rs2269736 | |
pharmgkb | rs2269736 |
gwascentral | rs2269736 |
openSNP | rs2269736 |
23andMe | rs2269736 |
SNPshot | rs2269736 |
SNPdbe | rs2269736 |
MSV3d | rs2269736 |
GWAS Ctlg | rs2269736 |
GMAF | 0.1717 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20555336] Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa
ClinVar | |
---|---|
Risk | rs2269736(A;A) rs2269736(C;C) |
Alt | rs2269736(A;A) rs2269736(C;C) |
Reference | Rs2269736(G;G) |
Significance | Non-pathogenic |
Disease | Retinitis Pigmentosa Congenital Stationary Night Blindness |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis Pigmentosa, Dominant/Recessive Congenital Stationary Night Blindness, Dominant |
Reversed | 0 |
HGVS | NC_000003.11:g.129247526G>A |
CLNSRC | |
CLNACC | RCV000272221.1, RCV000320268.1, |