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

rs386833836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAG;TGAG) 0 common in clinvar
Make rs386833836(-;-)
Make rs386833836(-;TGAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position135794751
GeneLCT
is asnp
is mentioned by
dbSNPrs386833836
ebirs386833836
HLIrs386833836
Exacrs386833836
Varsomers386833836
Maprs386833836
PheGenIrs386833836
hapmaprs386833836
1000 genomesrs386833836
hgdprs386833836
ensemblrs386833836
gopubmedrs386833836
geneviewrs386833836
scholarrs386833836
googlers386833836
pharmgkbrs386833836
gwascentralrs386833836
openSNPrs386833836
23andMers386833836
23andMe allrs386833836
SNP Nexus

SNPshotrs386833836
SNPdbers386833836
MSV3drs386833836
GWAS Ctlgrs386833836
Max Magnitude0
ClinVar
Risk rs386833836(;)
Alt rs386833836(;)
Reference rs386833836(TGAG;TGAG)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136552321_136552324delCTCA
CLNSRC ClinVar
CLNACC RCV000049804.1,


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