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rs121918582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918582(A;A)
Make rs121918582(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position653912
GenePDE6B, TGM5
is asnp
is mentioned by
dbSNPrs121918582
ebirs121918582
HLIrs121918582
Exacrs121918582
Varsomers121918582
Maprs121918582
PheGenIrs121918582
hapmaprs121918582
1000 genomesrs121918582
hgdprs121918582
ensemblrs121918582
gopubmedrs121918582
geneviewrs121918582
scholarrs121918582
googlers121918582
pharmgkbrs121918582
gwascentralrs121918582
openSNPrs121918582
23andMers121918582
23andMe allrs121918582
SNP Nexus

SNPshotrs121918582
SNPdbers121918582
MSV3drs121918582
GWAS Ctlgrs121918582
Max Magnitude0
OMIM180072
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918582(A;A)
Alt rs121918582(A;A)
Reference rs121918582(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene PDE6B RP11-1191J2.2
CLNDBN Congenital stationary night blindness, autosomal dominant 2
Reversed 0
HGVS NC_000004.11:g.647701C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013986.23,