rs386833837

Orientation

minus

Stabilized

minus

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

Make rs386833837(-;-)

Make rs386833837(-;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135789747

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833837
dbSNP (classic)	rs386833837
ClinGen	rs386833837
ebi	rs386833837
HLI	rs386833837
Exac	rs386833837
Gnomad	rs386833837
Varsome	rs386833837
LitVar	rs386833837
Map	rs386833837
PheGenI	rs386833837
Biobank	rs386833837
1000 genomes	rs386833837
hgdp	rs386833837
ensembl	rs386833837
geneview	rs386833837
scholar	rs386833837
google	rs386833837
pharmgkb	rs386833837
gwascentral	rs386833837
openSNP	rs386833837
23andMe	rs386833837
SNPshot	rs386833837
SNPdbe	rs386833837
MSV3d	rs386833837
GWAS Ctlg	rs386833837

Max Magnitude

0

ClinVar
Risk	rs386833837(-;-)
Alt	rs386833837(-;-)
Reference	Rs386833837(A;A)
Significance	Probable-Pathogenic
Disease	Congenital lactase deficiency
Variation	info
Gene	LCT
CLNDBN	Congenital lactase deficiency
Reversed	1
HGVS	NC_000002.11:g.136547317delT
CLNSRC	ClinVar
CLNACC	RCV000049805.1,

[PMID 22688420] Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.