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rs121909600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909600(A;T)
Make rs121909600(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position47943203
GeneCNGA1, LOC101927157
is asnp
is mentioned by
dbSNPrs121909600
dbSNP (classic)rs121909600
ClinGenrs121909600
ebirs121909600
HLIrs121909600
Exacrs121909600
Gnomadrs121909600
Varsomers121909600
LitVarrs121909600
Maprs121909600
PheGenIrs121909600
Biobankrs121909600
1000 genomesrs121909600
hgdprs121909600
ensemblrs121909600
geneviewrs121909600
scholarrs121909600
googlers121909600
pharmgkbrs121909600
gwascentralrs121909600
openSNPrs121909600
23andMers121909600
SNPshotrs121909600
SNPdbers121909600
MSV3drs121909600
GWAS Ctlgrs121909600
Max Magnitude0
OMIM123825
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909600(T;T)
Alt rs121909600(T;T)
Reference Rs121909600(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 49
Variation info
Gene CNGA1 LOC101927157
CLNDBN Retinitis pigmentosa 49
Reversed 1
HGVS NC_000004.11:g.47945220T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018439.23,