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rs386833832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTGG;AGTGG) 0 common in clinvar
Make rs386833832(-;-)
Make rs386833832(-;AGTGG)
ReferenceGRCh38 38.1/141
Chromosome2
Position135817352
GeneLCT
is asnp
is mentioned by
dbSNPrs386833832
ebirs386833832
HLIrs386833832
Exacrs386833832
Varsomers386833832
Maprs386833832
PheGenIrs386833832
hapmaprs386833832
1000 genomesrs386833832
hgdprs386833832
ensemblrs386833832
gopubmedrs386833832
geneviewrs386833832
scholarrs386833832
googlers386833832
pharmgkbrs386833832
gwascentralrs386833832
openSNPrs386833832
23andMers386833832
23andMe allrs386833832
SNP Nexus

SNPshotrs386833832
SNPdbers386833832
MSV3drs386833832
GWAS Ctlgrs386833832
Max Magnitude0
ClinVar
Risk rs386833832(;)
Alt rs386833832(;)
Reference rs386833832(AGTGG;AGTGG)
Significance Probable-Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136574922_136574926delCCACT
CLNSRC ClinVar
CLNACC RCV000049800.1,


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