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rs121912611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912611(A;C)
Make rs121912611(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position165019732
GeneSI
is asnp
is mentioned by
dbSNPrs121912611
ebirs121912611
HLIrs121912611
Exacrs121912611
Varsomers121912611
Maprs121912611
PheGenIrs121912611
hapmaprs121912611
1000 genomesrs121912611
hgdprs121912611
ensemblrs121912611
gopubmedrs121912611
geneviewrs121912611
scholarrs121912611
googlers121912611
pharmgkbrs121912611
gwascentralrs121912611
openSNPrs121912611
23andMers121912611
23andMe allrs121912611
SNP Nexus

SNPshotrs121912611
SNPdbers121912611
MSV3drs121912611
GWAS Ctlgrs121912611
Max Magnitude0
OMIM609845
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912611(C;C)
Alt rs121912611(C;C)
Reference rs121912611(A;A)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164737520T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001477.3,