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rs121909599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909599(G;T)
Make rs121909599(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position47949894
GeneCNGA1, LOC101927157
is asnp
is mentioned by
dbSNPrs121909599
ebirs121909599
HLIrs121909599
Exacrs121909599
Varsomers121909599
Maprs121909599
PheGenIrs121909599
hapmaprs121909599
1000 genomesrs121909599
hgdprs121909599
ensemblrs121909599
gopubmedrs121909599
geneviewrs121909599
scholarrs121909599
googlers121909599
pharmgkbrs121909599
gwascentralrs121909599
openSNPrs121909599
23andMers121909599
23andMe allrs121909599
SNP Nexus

SNPshotrs121909599
SNPdbers121909599
MSV3drs121909599
GWAS Ctlgrs121909599
Max Magnitude0
OMIM123825
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909599(A,T;A,T)
Alt rs121909599(A,T;A,T)
Reference rs121909599(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 49
Variation info
Gene CNGA1 LOC101927157
CLNDBN Retinitis pigmentosa 49
Reversed 1
HGVS NC_000004.11:g.47951911C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018438.23,