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rs121912615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912615(G;G)
Make rs121912615(G;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position165046998
GeneSI
is asnp
is mentioned by
dbSNPrs121912615
ebirs121912615
HLIrs121912615
Exacrs121912615
Varsomers121912615
Maprs121912615
PheGenIrs121912615
hapmaprs121912615
1000 genomesrs121912615
hgdprs121912615
ensemblrs121912615
gopubmedrs121912615
geneviewrs121912615
scholarrs121912615
googlers121912615
pharmgkbrs121912615
gwascentralrs121912615
openSNPrs121912615
23andMers121912615
23andMe allrs121912615
SNP Nexus

SNPshotrs121912615
SNPdbers121912615
MSV3drs121912615
GWAS Ctlgrs121912615
GMAF0.0004591
Max Magnitude0
OMIM609845
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912615(G;G)
Alt rs121912615(G;G)
Reference rs121912615(T;T)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164764786A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001483.4,