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rs386833834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833834(C;G)
Make rs386833834(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position135804812
GeneLCT
is asnp
is mentioned by
dbSNPrs386833834
ebirs386833834
HLIrs386833834
Exacrs386833834
Varsomers386833834
Maprs386833834
PheGenIrs386833834
hapmaprs386833834
1000 genomesrs386833834
hgdprs386833834
ensemblrs386833834
gopubmedrs386833834
geneviewrs386833834
scholarrs386833834
googlers386833834
pharmgkbrs386833834
gwascentralrs386833834
openSNPrs386833834
23andMers386833834
23andMe allrs386833834
SNP Nexus

SNPshotrs386833834
SNPdbers386833834
MSV3drs386833834
GWAS Ctlgrs386833834
Max Magnitude0
ClinVar
Risk rs386833834(G,T;G,T)
Alt rs386833834(G,T;G,T)
Reference rs386833834(C;C)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136562382G>C
CLNSRC ClinVar
CLNACC RCV000049802.1,


[PMID 22688420] Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.