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rs121918578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918578(A;A)
Make rs121918578(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149895228
GenePDE6A
is asnp
is mentioned by
dbSNPrs121918578
ebirs121918578
HLIrs121918578
Exacrs121918578
Varsomers121918578
Maprs121918578
PheGenIrs121918578
hapmaprs121918578
1000 genomesrs121918578
hgdprs121918578
ensemblrs121918578
gopubmedrs121918578
geneviewrs121918578
scholarrs121918578
googlers121918578
pharmgkbrs121918578
gwascentralrs121918578
openSNPrs121918578
23andMers121918578
23andMe allrs121918578
SNP Nexus

SNPshotrs121918578
SNPdbers121918578
MSV3drs121918578
GWAS Ctlgrs121918578
Max Magnitude0
OMIM180071
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918578(A;A)
Alt rs121918578(A;A)
Reference rs121918578(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 1
HGVS NC_000005.9:g.149274791C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013991.18,