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rs386833838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs386833838(-;-)
Make rs386833838(-;CT)
ReferenceGRCh38 38.1/141
Chromosome2
Position135833177
GeneLCT
is asnp
is mentioned by
dbSNPrs386833838
ebirs386833838
HLIrs386833838
Exacrs386833838
Varsomers386833838
Maprs386833838
PheGenIrs386833838
hapmaprs386833838
1000 genomesrs386833838
hgdprs386833838
ensemblrs386833838
gopubmedrs386833838
geneviewrs386833838
scholarrs386833838
googlers386833838
pharmgkbrs386833838
gwascentralrs386833838
openSNPrs386833838
23andMers386833838
23andMe allrs386833838
SNP Nexus

SNPshotrs386833838
SNPdbers386833838
MSV3drs386833838
GWAS Ctlgrs386833838
Max Magnitude0
ClinVar
Risk rs386833838(;)
Alt rs386833838(;)
Reference rs386833838(CT;CT)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136590747_136590748delAG
CLNSRC ClinVar
CLNACC RCV000049806.1,


[PMID 16400612OA-icon.png] Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.