rs121918214
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a GDFD mutation (see text) |
| (G;G) | 0 | common in clinvar |
| Make rs121918214(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 53873837 |
| Gene | FTO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918214 |
| dbSNP (classic) | rs121918214 |
| ClinGen | rs121918214 |
| ebi | rs121918214 |
| HLI | rs121918214 |
| Exac | rs121918214 |
| Gnomad | rs121918214 |
| Varsome | rs121918214 |
| LitVar | rs121918214 |
| Map | rs121918214 |
| PheGenI | rs121918214 |
| Biobank | rs121918214 |
| 1000 genomes | rs121918214 |
| hgdp | rs121918214 |
| ensembl | rs121918214 |
| geneview | rs121918214 |
| scholar | rs121918214 |
| rs121918214 | |
| pharmgkb | rs121918214 |
| gwascentral | rs121918214 |
| openSNP | rs121918214 |
| 23andMe | rs121918214 |
| SNPshot | rs121918214 |
| SNPdbe | rs121918214 |
| MSV3d | rs121918214 |
| GWAS Ctlg | rs121918214 |
| Max Magnitude | 3 |
aka c.947G>A (p.Arg316Gln or R316Q)
GDFD is an acronym for growth retardation, developmental delay, coarse facies, and early death
| ClinVar | |
|---|---|
| Risk | rs121918214(A;A) |
| Alt | rs121918214(A;A) |
| Reference | Rs121918214(G;G) |
| Significance | Pathogenic |
| Disease | Growth retardation |
| Variation | info |
| Gene | FTO |
| CLNDBN | Growth retardation, developmental delay, coarse facies, and early death |
| Reversed | 0 |
| HGVS | NC_000016.9:g.53907749G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001110.3, |
