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, |
