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rs121912554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912554(G;G)
Make rs121912554(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position128400120
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs121912554
ebirs121912554
HLIrs121912554
Exacrs121912554
Varsomers121912554
Maprs121912554
PheGenIrs121912554
hapmaprs121912554
1000 genomesrs121912554
hgdprs121912554
ensemblrs121912554
gopubmedrs121912554
geneviewrs121912554
scholarrs121912554
googlers121912554
pharmgkbrs121912554
gwascentralrs121912554
openSNPrs121912554
23andMers121912554
23andMe allrs121912554
SNP Nexus

SNPshotrs121912554
SNPdbers121912554
MSV3drs121912554
GWAS Ctlgrs121912554
Max Magnitude0
OMIM146690
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912554(C,G;C,G)
Alt rs121912554(C,G;C,G)
Reference rs121912554(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 11
Variation info
Gene IMPDH1
CLNDBN Leber congenital amaurosis 11
Reversed 1
HGVS NC_000007.13:g.128040174A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015963.25,