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rs121912612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912612(A;G)
Make rs121912612(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position165069101
GeneSI
is asnp
is mentioned by
dbSNPrs121912612
ebirs121912612
HLIrs121912612
Exacrs121912612
Varsomers121912612
Maprs121912612
PheGenIrs121912612
hapmaprs121912612
1000 genomesrs121912612
hgdprs121912612
ensemblrs121912612
gopubmedrs121912612
geneviewrs121912612
scholarrs121912612
googlers121912612
pharmgkbrs121912612
gwascentralrs121912612
openSNPrs121912612
23andMers121912612
23andMe allrs121912612
SNP Nexus

SNPshotrs121912612
SNPdbers121912612
MSV3drs121912612
GWAS Ctlgrs121912612
Max Magnitude0
OMIM609845
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912612(G;G)
Alt rs121912612(G;G)
Reference rs121912612(A;A)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164786889T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001479.4,