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rs121909124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909124(A;A)
Make rs121909124(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position42185686
GeneGUCA1B
is asnp
is mentioned by
dbSNPrs121909124
dbSNP (classic)rs121909124
ClinGenrs121909124
ebirs121909124
HLIrs121909124
Exacrs121909124
Gnomadrs121909124
Varsomers121909124
LitVarrs121909124
Maprs121909124
PheGenIrs121909124
Biobankrs121909124
1000 genomesrs121909124
hgdprs121909124
ensemblrs121909124
geneviewrs121909124
scholarrs121909124
googlers121909124
pharmgkbrs121909124
gwascentralrs121909124
openSNPrs121909124
23andMers121909124
SNPshotrs121909124
SNPdbers121909124
MSV3drs121909124
GWAS Ctlgrs121909124
GMAF0.0004591
Max Magnitude0
OMIM602275
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909124(A;A)
Alt rs121909124(A;A)
Reference Rs121909124(G;G)
Significance Other
Disease Retinitis pigmentosa 48 not provided Retinitis Pigmentosa
Variation info
Gene GUCA1B
CLNDBN Retinitis pigmentosa 48 not provided Retinitis Pigmentosa, Dominant
Reversed 1
HGVS NC_000006.11:g.42153424C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007794.2, RCV000132648.1, RCV000343566.1,