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rs121912550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912550(A;A)
Make rs121912550(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128398557
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs121912550
dbSNP (classic)rs121912550
ClinGenrs121912550
ebirs121912550
HLIrs121912550
Exacrs121912550
Gnomadrs121912550
Varsomers121912550
LitVarrs121912550
Maprs121912550
PheGenIrs121912550
Biobankrs121912550
1000 genomesrs121912550
hgdprs121912550
ensemblrs121912550
geneviewrs121912550
scholarrs121912550
googlers121912550
pharmgkbrs121912550
gwascentralrs121912550
openSNPrs121912550
23andMers121912550
SNPshotrs121912550
SNPdbers121912550
MSV3drs121912550
GWAS Ctlgrs121912550
Max Magnitude0
OMIM146690
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912550(A;A)
Alt rs121912550(A;A)
Reference Rs121912550(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 10 not provided
Variation info
Gene IMPDH1
CLNDBN Retinitis pigmentosa 10 not provided
Reversed 1
HGVS NC_000007.13:g.128038611C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015959.25, RCV000255540.1,