rs386833832

Orientation

minus

Stabilized

minus

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

Make rs386833832(-;-)

Make rs386833832(-;AGTGG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135817352

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833832
dbSNP (classic)	rs386833832
ClinGen	rs386833832
ebi	rs386833832
HLI	rs386833832
Exac	rs386833832
Gnomad	rs386833832
Varsome	rs386833832
LitVar	rs386833832
Map	rs386833832
PheGenI	rs386833832
Biobank	rs386833832
1000 genomes	rs386833832
hgdp	rs386833832
ensembl	rs386833832
geneview	rs386833832
scholar	rs386833832
google	rs386833832
pharmgkb	rs386833832
gwascentral	rs386833832
openSNP	rs386833832
23andMe	rs386833832
SNPshot	rs386833832
SNPdbe	rs386833832
MSV3d	rs386833832
GWAS Ctlg	rs386833832

Max Magnitude

0

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