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rs121912616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912616(A;A)
Make rs121912616(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position165021265
GeneSI
is asnp
is mentioned by
dbSNPrs121912616
ebirs121912616
HLIrs121912616
Exacrs121912616
Varsomers121912616
Maprs121912616
PheGenIrs121912616
hapmaprs121912616
1000 genomesrs121912616
hgdprs121912616
ensemblrs121912616
gopubmedrs121912616
geneviewrs121912616
scholarrs121912616
googlers121912616
pharmgkbrs121912616
gwascentralrs121912616
openSNPrs121912616
23andMers121912616
23andMe allrs121912616
SNP Nexus

SNPshotrs121912616
SNPdbers121912616
MSV3drs121912616
GWAS Ctlgrs121912616
Max Magnitude0
OMIM609845
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912616(A;A)
Alt rs121912616(A;A)
Reference Rs121912616(G;G)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164739053C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001484.4,