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rs121918576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918576(C;G)
Make rs121918576(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149886354
GenePDE6A
is asnp
is mentioned by
dbSNPrs121918576
dbSNP (classic)rs121918576
ClinGenrs121918576
ebirs121918576
HLIrs121918576
Exacrs121918576
Gnomadrs121918576
Varsomers121918576
LitVarrs121918576
Maprs121918576
PheGenIrs121918576
Biobankrs121918576
1000 genomesrs121918576
hgdprs121918576
ensemblrs121918576
geneviewrs121918576
scholarrs121918576
googlers121918576
pharmgkbrs121918576
gwascentralrs121918576
openSNPrs121918576
23andMers121918576
SNPshotrs121918576
SNPdbers121918576
MSV3drs121918576
GWAS Ctlgrs121918576
Max Magnitude0
OMIM180071
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918576(G;G)
Alt rs121918576(G;G)
Reference Rs121918576(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 1
HGVS NC_000005.9:g.149265917G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013989.23,