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rs386833837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833837(-;-)
Make rs386833837(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position135789747
GeneLCT
is asnp
is mentioned by
dbSNPrs386833837
ebirs386833837
HLIrs386833837
Exacrs386833837
Varsomers386833837
Maprs386833837
PheGenIrs386833837
hapmaprs386833837
1000 genomesrs386833837
hgdprs386833837
ensemblrs386833837
gopubmedrs386833837
geneviewrs386833837
scholarrs386833837
googlers386833837
pharmgkbrs386833837
gwascentralrs386833837
openSNPrs386833837
23andMers386833837
23andMe allrs386833837
SNP Nexus

SNPshotrs386833837
SNPdbers386833837
MSV3drs386833837
GWAS Ctlgrs386833837
Max Magnitude0
ClinVar
Risk rs386833837(;)
Alt rs386833837(;)
Reference rs386833837(A;A)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136547317delT
CLNSRC ClinVar
CLNACC RCV000049805.1,


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