Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833833(A;A)
Make rs386833833(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position135807214
GeneLCT
is asnp
is mentioned by
dbSNPrs386833833
ebirs386833833
HLIrs386833833
Exacrs386833833
Varsomers386833833
Maprs386833833
PheGenIrs386833833
hapmaprs386833833
1000 genomesrs386833833
hgdprs386833833
ensemblrs386833833
gopubmedrs386833833
geneviewrs386833833
scholarrs386833833
googlers386833833
pharmgkbrs386833833
gwascentralrs386833833
openSNPrs386833833
23andMers386833833
23andMe allrs386833833
SNP Nexus

SNPshotrs386833833
SNPdbers386833833
MSV3drs386833833
GWAS Ctlgrs386833833
Max Magnitude0
ClinVar
Risk rs386833833(A;A)
Alt rs386833833(A;A)
Reference rs386833833(G;G)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136564784C>T
CLNSRC ClinVar
CLNACC RCV000049801.1,


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