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rs121918577

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918577(A;A)
Make rs121918577(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149907345
GenePDE6A
is asnp
is mentioned by
dbSNPrs121918577
ebirs121918577
HLIrs121918577
Exacrs121918577
Varsomers121918577
Maprs121918577
PheGenIrs121918577
hapmaprs121918577
1000 genomesrs121918577
hgdprs121918577
ensemblrs121918577
gopubmedrs121918577
geneviewrs121918577
scholarrs121918577
googlers121918577
pharmgkbrs121918577
gwascentralrs121918577
openSNPrs121918577
23andMers121918577
23andMe allrs121918577
SNP Nexus

SNPshotrs121918577
SNPdbers121918577
MSV3drs121918577
GWAS Ctlgrs121918577
Max Magnitude0
OMIM180071
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918577(A,T;A,T)
Alt rs121918577(A,T;A,T)
Reference rs121918577(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 1
HGVS NC_000005.9:g.149286908G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013990.25,