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rs121918537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918537(C;T)
Make rs121918537(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position93612810
GenePDE6C
is asnp
is mentioned by
dbSNPrs121918537
dbSNP (classic)rs121918537
ClinGenrs121918537
ebirs121918537
HLIrs121918537
Exacrs121918537
Gnomadrs121918537
Varsomers121918537
LitVarrs121918537
Maprs121918537
PheGenIrs121918537
Biobankrs121918537
1000 genomesrs121918537
hgdprs121918537
ensemblrs121918537
geneviewrs121918537
scholarrs121918537
googlers121918537
pharmgkbrs121918537
gwascentralrs121918537
openSNPrs121918537
23andMers121918537
SNPshotrs121918537
SNPdbers121918537
MSV3drs121918537
GWAS Ctlgrs121918537
Max Magnitude0
OMIM600827
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918537(A;A) rs121918537(T;T)
Alt rs121918537(A;A) rs121918537(T;T)
Reference Rs121918537(C;C)
Significance Pathogenic
Disease Cone dystrophy 4
Variation info
Gene PDE6C
CLNDBN Cone dystrophy 4
Reversed 0
HGVS NC_000010.10:g.95372567C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009308.4,