rs3120649
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3120649(A;A) |
| Make rs3120649(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 152311335 |
| Gene | FLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3120649 |
| dbSNP (classic) | rs3120649 |
| ClinGen | rs3120649 |
| ebi | rs3120649 |
| HLI | rs3120649 |
| Exac | rs3120649 |
| Gnomad | rs3120649 |
| Varsome | rs3120649 |
| LitVar | rs3120649 |
| Map | rs3120649 |
| PheGenI | rs3120649 |
| Biobank | rs3120649 |
| 1000 genomes | rs3120649 |
| hgdp | rs3120649 |
| ensembl | rs3120649 |
| geneview | rs3120649 |
| scholar | rs3120649 |
| rs3120649 | |
| pharmgkb | rs3120649 |
| gwascentral | rs3120649 |
| openSNP | rs3120649 |
| 23andMe | rs3120649 |
| SNPshot | rs3120649 |
| SNPdbe | rs3120649 |
| MSV3d | rs3120649 |
| GWAS Ctlg | rs3120649 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs3120649(A;A) rs3120649(T;T) |
| Alt | rs3120649(A;A) rs3120649(T;T) |
| Reference | Rs3120649(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FLG |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152283811G>T |
| CLNSRC | |
| CLNACC | RCV000483623.1, |
