rs1538660
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 0.1 | Likely to be a benign variant |
| Make rs1538660(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 108879545 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1538660 |
| dbSNP (classic) | rs1538660 |
| ClinGen | rs1538660 |
| ebi | rs1538660 |
| HLI | rs1538660 |
| Exac | rs1538660 |
| Gnomad | rs1538660 |
| Varsome | rs1538660 |
| LitVar | rs1538660 |
| Map | rs1538660 |
| PheGenI | rs1538660 |
| Biobank | rs1538660 |
| 1000 genomes | rs1538660 |
| hgdp | rs1538660 |
| ensembl | rs1538660 |
| geneview | rs1538660 |
| scholar | rs1538660 |
| rs1538660 | |
| pharmgkb | rs1538660 |
| gwascentral | rs1538660 |
| openSNP | rs1538660 |
| 23andMe | rs1538660 |
| SNPshot | rs1538660 |
| SNPdbe | rs1538660 |
| MSV3d | rs1538660 |
| GWAS Ctlg | rs1538660 |
| GMAF | 0.2231 |
| Max Magnitude | 0.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1538660(T;T) |
| Alt | rs1538660(T;T) |
| Reference | Rs1538660(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Familial dysautonomia |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | not specified Familial dysautonomia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.111641825G>A |
| CLNSRC | |
| CLNACC | RCV000245565.1, RCV000268649.1, |
