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rs7984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs7984(A;G)
Make rs7984(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129528708
GeneRHO
is asnp
is mentioned by
dbSNPrs7984
dbSNP (classic)rs7984
ClinGenrs7984
ebirs7984
HLIrs7984
Exacrs7984
Gnomadrs7984
Varsomers7984
LitVarrs7984
Maprs7984
PheGenIrs7984
Biobankrs7984
1000 genomesrs7984
hgdprs7984
ensemblrs7984
geneviewrs7984
scholarrs7984
googlers7984
pharmgkbrs7984
gwascentralrs7984
openSNPrs7984
23andMers7984
SNPshotrs7984
SNPdbers7984
MSV3drs7984
GWAS Ctlgrs7984
GMAF0.4706
Max Magnitude0
? (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,