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rs121918563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918563(C;C)
Make rs121918563(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42721781
GenePRPH2
is asnp
is mentioned by
dbSNPrs121918563
ebirs121918563
HLIrs121918563
Exacrs121918563
Varsomers121918563
Maprs121918563
PheGenIrs121918563
hapmaprs121918563
1000 genomesrs121918563
hgdprs121918563
ensemblrs121918563
gopubmedrs121918563
geneviewrs121918563
scholarrs121918563
googlers121918563
pharmgkbrs121918563
gwascentralrs121918563
openSNPrs121918563
23andMers121918563
23andMe allrs121918563
SNP Nexus

SNPshotrs121918563
SNPdbers121918563
MSV3drs121918563
GWAS Ctlgrs121918563
Max Magnitude0
OMIM179605
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918563(C;C)
Alt rs121918563(C;C)
Reference rs121918563(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 7 not provided Leber congenital amaurosis 18 Patterned dystrophy of retinal pigment epithelium
Variation info
Gene PRPH2
CLNDBN Retinitis pigmentosa 7, digenic not provided Leber congenital amaurosis 18 Patterned dystrophy of retinal pigment epithelium
Reversed 1
HGVS NC_000006.11:g.42689519A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014051.25, RCV000084987.1, RCV000149464.2, RCV000149466.2,