rs7984
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs7984(A;G) |
Make rs7984(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129528708 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs7984 |
dbSNP (classic) | rs7984 |
ClinGen | rs7984 |
ebi | rs7984 |
HLI | rs7984 |
Exac | rs7984 |
Gnomad | rs7984 |
Varsome | rs7984 |
LitVar | rs7984 |
Map | rs7984 |
PheGenI | rs7984 |
Biobank | rs7984 |
1000 genomes | rs7984 |
hgdp | rs7984 |
ensembl | rs7984 |
geneview | rs7984 |
scholar | rs7984 |
rs7984 | |
pharmgkb | rs7984 |
gwascentral | rs7984 |
openSNP | rs7984 |
23andMe | rs7984 |
SNPshot | rs7984 |
SNPdbe | rs7984 |
MSV3d | rs7984 |
GWAS Ctlg | rs7984 |
GMAF | 0.4706 |
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 | rs7984(G;G) |
Alt | rs7984(G;G) |
Reference | Rs7984(A;A) |
Significance | Non-pathogenic |
Disease | not specified Retinitis Pigmentosa Congenital Stationary Night Blindness |
Variation | info |
Gene | RHO |
CLNDBN | not specified Retinitis Pigmentosa, Dominant/Recessive Congenital Stationary Night Blindness, Dominant |
Reversed | 0 |
HGVS | NC_000003.11:g.129247551A>G |
CLNSRC | |
CLNACC | RCV000244948.1, RCV000285210.1, RCV000377312.1, |