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rs386833835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833835(G;T)
Make rs386833835(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position135800639
GeneLCT
is asnp
is mentioned by
dbSNPrs386833835
ebirs386833835
HLIrs386833835
Exacrs386833835
Varsomers386833835
Maprs386833835
PheGenIrs386833835
hapmaprs386833835
1000 genomesrs386833835
hgdprs386833835
ensemblrs386833835
gopubmedrs386833835
geneviewrs386833835
scholarrs386833835
googlers386833835
pharmgkbrs386833835
gwascentralrs386833835
openSNPrs386833835
23andMers386833835
23andMe allrs386833835
SNP Nexus

SNPshotrs386833835
SNPdbers386833835
MSV3drs386833835
GWAS Ctlgrs386833835
Max Magnitude0
ClinVar
Risk rs386833835(T;T)
Alt rs386833835(T;T)
Reference rs386833835(G;G)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136558209C>A
CLNSRC ClinVar
CLNACC RCV000049803.1,


[PMID 19161632OA-icon.png] Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).