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rs121917828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917828(C;T)
Make rs121917828(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position67456191
GeneCABP4
is asnp
is mentioned by
dbSNPrs121917828
ebirs121917828
HLIrs121917828
Exacrs121917828
Varsomers121917828
Maprs121917828
PheGenIrs121917828
hapmaprs121917828
1000 genomesrs121917828
hgdprs121917828
ensemblrs121917828
gopubmedrs121917828
geneviewrs121917828
scholarrs121917828
googlers121917828
pharmgkbrs121917828
gwascentralrs121917828
openSNPrs121917828
23andMers121917828
23andMe allrs121917828
SNP Nexus

SNPshotrs121917828
SNPdbers121917828
MSV3drs121917828
GWAS Ctlgrs121917828
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs121917828(T;T)
Alt rs121917828(T;T)
Reference rs121917828(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene CABP4
CLNDBN Congenital stationary night blindness, type 2B
Reversed 0
HGVS NC_000011.9:g.67223662C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002030.3,