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rs121918579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918579(C;T)
Make rs121918579(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position654119
GeneLOC101928521, PDE6B
is asnp
is mentioned by
dbSNPrs121918579
dbSNP (classic)rs121918579
ClinGenrs121918579
ebirs121918579
HLIrs121918579
Exacrs121918579
Gnomadrs121918579
Varsomers121918579
LitVarrs121918579
Maprs121918579
PheGenIrs121918579
Biobankrs121918579
1000 genomesrs121918579
hgdprs121918579
ensemblrs121918579
geneviewrs121918579
scholarrs121918579
googlers121918579
pharmgkbrs121918579
gwascentralrs121918579
openSNPrs121918579
23andMers121918579
SNPshotrs121918579
SNPdbers121918579
MSV3drs121918579
GWAS Ctlgrs121918579
Max Magnitude0
OMIM180072
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918579(T;T)
Alt rs121918579(T;T)
Reference Rs121918579(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 40
Variation info
Gene PDE6B RP11-1191J2.2
CLNDBN Retinitis pigmentosa 40
Reversed 0
HGVS NC_000004.11:g.647908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013982.20,