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rs121912552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912552(C;C)
Make rs121912552(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128398562
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs121912552
dbSNP (classic)rs121912552
ClinGenrs121912552
ebirs121912552
HLIrs121912552
Exacrs121912552
Gnomadrs121912552
Varsomers121912552
LitVarrs121912552
Maprs121912552
PheGenIrs121912552
Biobankrs121912552
1000 genomesrs121912552
hgdprs121912552
ensemblrs121912552
geneviewrs121912552
scholarrs121912552
googlers121912552
pharmgkbrs121912552
gwascentralrs121912552
openSNPrs121912552
23andMers121912552
SNPshotrs121912552
SNPdbers121912552
MSV3drs121912552
GWAS Ctlgrs121912552
Max Magnitude0
OMIM146690
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912552(C;C)
Alt rs121912552(C;C)
Reference Rs121912552(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 10
Variation info
Gene IMPDH1
CLNDBN Retinitis pigmentosa 10
Reversed 1
HGVS NC_000007.13:g.128038616C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015961.25,