rs386833838

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs386833838(-;-)

Make rs386833838(-;CT)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135833177

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833838
dbSNP (classic)	rs386833838
ClinGen	rs386833838
ebi	rs386833838
HLI	rs386833838
Exac	rs386833838
Gnomad	rs386833838
Varsome	rs386833838
LitVar	rs386833838
Map	rs386833838
PheGenI	rs386833838
Biobank	rs386833838
1000 genomes	rs386833838
hgdp	rs386833838
ensembl	rs386833838
geneview	rs386833838
scholar	rs386833838
google	rs386833838
pharmgkb	rs386833838
gwascentral	rs386833838
openSNP	rs386833838
23andMe	rs386833838
SNPshot	rs386833838
SNPdbe	rs386833838
MSV3d	rs386833838
GWAS Ctlg	rs386833838

Max Magnitude

0

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 16400612] Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.