rs386833834

Orientation

minus

Stabilized

minus

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

Make rs386833834(C;G)

Make rs386833834(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

135804812

Gene

LCT

is a	snp
is	mentioned by
dbSNP	rs386833834
dbSNP (classic)	rs386833834
ClinGen	rs386833834
ebi	rs386833834
HLI	rs386833834
Exac	rs386833834
Gnomad	rs386833834
Varsome	rs386833834
LitVar	rs386833834
Map	rs386833834
PheGenI	rs386833834
Biobank	rs386833834
1000 genomes	rs386833834
hgdp	rs386833834
ensembl	rs386833834
geneview	rs386833834
scholar	rs386833834
google	rs386833834
pharmgkb	rs386833834
gwascentral	rs386833834
openSNP	rs386833834
23andMe	rs386833834
SNPshot	rs386833834
SNPdbe	rs386833834
MSV3d	rs386833834
GWAS Ctlg	rs386833834

Max Magnitude

0

ClinVar
Risk	rs386833834(G;G) rs386833834(T;T)
Alt	rs386833834(G;G) rs386833834(T;T)
Reference	Rs386833834(C;C)
Significance	Probable-Pathogenic
Disease	Congenital lactase deficiency
Variation	info
Gene	LCT
CLNDBN	Congenital lactase deficiency
Reversed	1
HGVS	NC_000002.11:g.136562382G>C
CLNSRC	ClinVar
CLNACC	RCV000049802.1,

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