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rs121912553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912553(C;T)
Make rs121912553(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position128400828
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs121912553
ebirs121912553
HLIrs121912553
Exacrs121912553
Varsomers121912553
Maprs121912553
PheGenIrs121912553
hapmaprs121912553
1000 genomesrs121912553
hgdprs121912553
ensemblrs121912553
gopubmedrs121912553
geneviewrs121912553
scholarrs121912553
googlers121912553
pharmgkbrs121912553
gwascentralrs121912553
openSNPrs121912553
23andMers121912553
23andMe allrs121912553
SNP Nexus

SNPshotrs121912553
SNPdbers121912553
MSV3drs121912553
GWAS Ctlgrs121912553
GMAF0.0009183
Max Magnitude0
OMIM146690
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912553(T;T)
Alt rs121912553(T;T)
Reference rs121912553(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 11
Variation info
Gene IMPDH1
CLNDBN Leber congenital amaurosis 11
Reversed 1
HGVS NC_000007.13:g.128040882G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015962.25,