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rs121912551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912551(A;A)
Make rs121912551(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128398431
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs121912551
dbSNP (classic)rs121912551
ClinGenrs121912551
ebirs121912551
HLIrs121912551
Exacrs121912551
Gnomadrs121912551
Varsomers121912551
LitVarrs121912551
Maprs121912551
PheGenIrs121912551
Biobankrs121912551
1000 genomesrs121912551
hgdprs121912551
ensemblrs121912551
geneviewrs121912551
scholarrs121912551
googlers121912551
pharmgkbrs121912551
gwascentralrs121912551
openSNPrs121912551
23andMers121912551
SNPshotrs121912551
SNPdbers121912551
MSV3drs121912551
GWAS Ctlgrs121912551
Max Magnitude0
OMIM146690
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912551(A;A)
Alt rs121912551(A;A)
Reference Rs121912551(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 10
Variation info
Gene IMPDH1
CLNDBN Retinitis pigmentosa 10
Reversed 1
HGVS NC_000007.13:g.128038485C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015960.25,