rs137853022
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7.7 | Familial dysautonomia |
| (C;G) | 3 | carrier of familial dysautonomia mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 108900303 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853022 |
| dbSNP (classic) | rs137853022 |
| ClinGen | rs137853022 |
| ebi | rs137853022 |
| HLI | rs137853022 |
| Exac | rs137853022 |
| Gnomad | rs137853022 |
| Varsome | rs137853022 |
| LitVar | rs137853022 |
| Map | rs137853022 |
| PheGenI | rs137853022 |
| Biobank | rs137853022 |
| 1000 genomes | rs137853022 |
| hgdp | rs137853022 |
| ensembl | rs137853022 |
| geneview | rs137853022 |
| scholar | rs137853022 |
| rs137853022 | |
| pharmgkb | rs137853022 |
| gwascentral | rs137853022 |
| openSNP | rs137853022 |
| 23andMe | rs137853022 |
| SNPshot | rs137853022 |
| SNPdbe | rs137853022 |
| MSV3d | rs137853022 |
| GWAS Ctlg | rs137853022 |
| Max Magnitude | 7.7 |
rs137853022, also known as R696P or Arg696Pro, is a SNP in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein IKBKAP gene.
This is reported as one of two mutations accounting for 99% of the cases of familial dysautonomia in Ashkenazi Jews; in 23andMe, it is reported as i4000400. Be aware of strand flipping issues in how this SNP is reported.
| ClinVar | |
|---|---|
| Risk | rs137853022(A;A) Rs137853022(C;C) |
| Alt | rs137853022(A;A) Rs137853022(C;C) |
| Reference | Rs137853022(G;G) |
| Significance | Other |
| Disease | Familial dysautonomia |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | Familial dysautonomia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.111662583C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006459.2, |
