rs386833836
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGAG;TGAG) | 0 | common in clinvar |
Make rs386833836(-;-) |
Make rs386833836(-;TGAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 135794751 |
Gene | LCT |
is a | snp |
is | mentioned by |
dbSNP | rs386833836 |
dbSNP (classic) | rs386833836 |
ClinGen | rs386833836 |
ebi | rs386833836 |
HLI | rs386833836 |
Exac | rs386833836 |
Gnomad | rs386833836 |
Varsome | rs386833836 |
LitVar | rs386833836 |
Map | rs386833836 |
PheGenI | rs386833836 |
Biobank | rs386833836 |
1000 genomes | rs386833836 |
hgdp | rs386833836 |
ensembl | rs386833836 |
geneview | rs386833836 |
scholar | rs386833836 |
rs386833836 | |
pharmgkb | rs386833836 |
gwascentral | rs386833836 |
openSNP | rs386833836 |
23andMe | rs386833836 |
SNPshot | rs386833836 |
SNPdbe | rs386833836 |
MSV3d | rs386833836 |
GWAS Ctlg | rs386833836 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833836(-;-) |
Alt | rs386833836(-;-) |
Reference | Rs386833836(TGAG;TGAG) |
Significance | Probable-Pathogenic |
Disease | Congenital lactase deficiency |
Variation | info |
Gene | LCT |
CLNDBN | Congenital lactase deficiency |
Reversed | 1 |
HGVS | NC_000002.11:g.136552321_136552324delCTCA |
CLNSRC | ClinVar |
CLNACC | RCV000049804.1, |
[PMID 16400612] Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.