rs386833835

Orientation

minus

Stabilized

minus

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

Make rs386833835(G;T)

Make rs386833835(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135800639

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833835
dbSNP (classic)	rs386833835
ClinGen	rs386833835
ebi	rs386833835
HLI	rs386833835
Exac	rs386833835
Gnomad	rs386833835
Varsome	rs386833835
LitVar	rs386833835
Map	rs386833835
PheGenI	rs386833835
Biobank	rs386833835
1000 genomes	rs386833835
hgdp	rs386833835
ensembl	rs386833835
geneview	rs386833835
scholar	rs386833835
google	rs386833835
pharmgkb	rs386833835
gwascentral	rs386833835
openSNP	rs386833835
23andMe	rs386833835
SNPshot	rs386833835
SNPdbe	rs386833835
MSV3d	rs386833835
GWAS Ctlg	rs386833835

Max Magnitude

0

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 19161632] Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).