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rs121912614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912614(A;A)
Make rs121912614(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position165017621
GeneSI
is asnp
is mentioned by
dbSNPrs121912614
ebirs121912614
HLIrs121912614
Exacrs121912614
Varsomers121912614
Maprs121912614
PheGenIrs121912614
hapmaprs121912614
1000 genomesrs121912614
hgdprs121912614
ensemblrs121912614
gopubmedrs121912614
geneviewrs121912614
scholarrs121912614
googlers121912614
pharmgkbrs121912614
gwascentralrs121912614
openSNPrs121912614
23andMers121912614
23andMe allrs121912614
SNP Nexus

SNPshotrs121912614
SNPdbers121912614
MSV3drs121912614
GWAS Ctlgrs121912614
Max Magnitude0
OMIM609845
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912614(A;A)
Alt rs121912614(A;A)
Reference rs121912614(G;G)
Significance Pathogenic
Disease Sucrase-isomaltase deficiency
Variation info
Gene SI
CLNDBN Sucrase-isomaltase deficiency
Reversed 1
HGVS NC_000003.11:g.164735409C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001481.3,