rs386833833

Orientation

minus

Stabilized

minus

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

Make rs386833833(A;A)

Make rs386833833(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135807214

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833833
dbSNP (classic)	rs386833833
ClinGen	rs386833833
ebi	rs386833833
HLI	rs386833833
Exac	rs386833833
Gnomad	rs386833833
Varsome	rs386833833
LitVar	rs386833833
Map	rs386833833
PheGenI	rs386833833
Biobank	rs386833833
1000 genomes	rs386833833
hgdp	rs386833833
ensembl	rs386833833
geneview	rs386833833
scholar	rs386833833
google	rs386833833
pharmgkb	rs386833833
gwascentral	rs386833833
openSNP	rs386833833
23andMe	rs386833833
SNPshot	rs386833833
SNPdbe	rs386833833
MSV3d	rs386833833
GWAS Ctlg	rs386833833

Max Magnitude

0

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	UniProtKB (protein)
CLNACC	RCV000049801.1,

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