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rs121918581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918581(C;T)
Make rs121918581(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position662188
GenePDE6B
is asnp
is mentioned by
dbSNPrs121918581
dbSNP (classic)rs121918581
ClinGenrs121918581
ebirs121918581
HLIrs121918581
Exacrs121918581
Gnomadrs121918581
Varsomers121918581
LitVarrs121918581
Maprs121918581
PheGenIrs121918581
Biobankrs121918581
1000 genomesrs121918581
hgdprs121918581
ensemblrs121918581
geneviewrs121918581
scholarrs121918581
googlers121918581
pharmgkbrs121918581
gwascentralrs121918581
openSNPrs121918581
23andMers121918581
SNPshotrs121918581
SNPdbers121918581
MSV3drs121918581
GWAS Ctlgrs121918581
Max Magnitude0
OMIM180072
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918581(T;T)
Alt rs121918581(T;T)
Reference Rs121918581(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 40 Retinitis pigmentosa
Variation info
Gene PDE6B LOC101928494
CLNDBN Retinitis pigmentosa 40 Retinitis pigmentosa
Reversed 0
HGVS NC_000004.11:g.655977C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013985.18, RCV000132576.1,