rs4954449
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(T;T) | 0 | common in clinvar |
Make rs4954449(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 135817964 |
Gene | LCT |
is a | snp |
is | mentioned by |
dbSNP | rs4954449 |
dbSNP (classic) | rs4954449 |
ClinGen | rs4954449 |
ebi | rs4954449 |
HLI | rs4954449 |
Exac | rs4954449 |
Gnomad | rs4954449 |
Varsome | rs4954449 |
LitVar | rs4954449 |
Map | rs4954449 |
PheGenI | rs4954449 |
Biobank | rs4954449 |
1000 genomes | rs4954449 |
hgdp | rs4954449 |
ensembl | rs4954449 |
geneview | rs4954449 |
scholar | rs4954449 |
rs4954449 | |
pharmgkb | rs4954449 |
gwascentral | rs4954449 |
openSNP | rs4954449 |
23andMe | rs4954449 |
SNPshot | rs4954449 |
SNPdbe | rs4954449 |
MSV3d | rs4954449 |
GWAS Ctlg | rs4954449 |
GMAF | 0.01882 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs4954449(C;C) |
Alt | Rs4954449(C;C) |
Reference | Rs4954449(T;T) |
Significance | Non-pathogenic |
Disease | Lactose intolerance Congenital lactase deficiency |
Variation | info |
Gene | LCT |
CLNDBN | Lactose intolerance Congenital lactase deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.136575534T>C |
CLNSRC | |
CLNACC | RCV000262636.1, RCV000352993.1, |