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rs121434243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434243(A;A)
Make rs121434243(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position150344201
GenePRPF3
is asnp
is mentioned by
dbSNPrs121434243
ebirs121434243
HLIrs121434243
Exacrs121434243
Varsomers121434243
Maprs121434243
PheGenIrs121434243
hapmaprs121434243
1000 genomesrs121434243
hgdprs121434243
ensemblrs121434243
gopubmedrs121434243
geneviewrs121434243
scholarrs121434243
googlers121434243
pharmgkbrs121434243
gwascentralrs121434243
openSNPrs121434243
23andMers121434243
23andMe allrs121434243
SNP Nexus

SNPshotrs121434243
SNPdbers121434243
MSV3drs121434243
GWAS Ctlgrs121434243
Max Magnitude0
OMIM607301
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434243(A;A)
Alt rs121434243(A;A)
Reference rs121434243(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 18
Variation info
Gene PRPF3
CLNDBN Retinitis pigmentosa 18
Reversed 0
HGVS NC_000001.10:g.150316677C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003518.2,