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rs121912613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912613(C;C)
Make rs121912613(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position165046869
GeneSI
is asnp
is mentioned by
dbSNPrs121912613
ebirs121912613
HLIrs121912613
Exacrs121912613
Varsomers121912613
Maprs121912613
PheGenIrs121912613
hapmaprs121912613
1000 genomesrs121912613
hgdprs121912613
ensemblrs121912613
gopubmedrs121912613
geneviewrs121912613
scholarrs121912613
googlers121912613
pharmgkbrs121912613
gwascentralrs121912613
openSNPrs121912613
23andMers121912613
23andMe allrs121912613
SNP Nexus

SNPshotrs121912613
SNPdbers121912613
MSV3drs121912613
GWAS Ctlgrs121912613
Max Magnitude0
OMIM609845
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912613(C;C)
Alt rs121912613(C;C)
Reference rs121912613(T;T)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164764657A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001480.4,