rs111033171
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7.7 | Familial dysautonomia |
| (C;T) | 3 | carrier of familial dysautonomia mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 108899816 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033171 |
| dbSNP (classic) | rs111033171 |
| ClinGen | rs111033171 |
| ebi | rs111033171 |
| HLI | rs111033171 |
| Exac | rs111033171 |
| Gnomad | rs111033171 |
| Varsome | rs111033171 |
| LitVar | rs111033171 |
| Map | rs111033171 |
| PheGenI | rs111033171 |
| Biobank | rs111033171 |
| 1000 genomes | rs111033171 |
| hgdp | rs111033171 |
| ensembl | rs111033171 |
| geneview | rs111033171 |
| scholar | rs111033171 |
| rs111033171 | |
| pharmgkb | rs111033171 |
| gwascentral | rs111033171 |
| openSNP | rs111033171 |
| 23andMe | rs111033171 |
| SNPshot | rs111033171 |
| SNPdbe | rs111033171 |
| MSV3d | rs111033171 |
| GWAS Ctlg | rs111033171 |
| Max Magnitude | 7.7 |
rs111033171, also known as IVS20_6T>C, IVS20(+6T->C), and c.2204+6T>C, 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 whom the carrier rate (1 in 32) is similar to Tay–Sachs disease and cystic fibrosis.
In 23andMe data, rs111033171 appears to be reported as i4000334. Be aware of strand flipping issues in how this SNP is reported.
| ClinVar | |
|---|---|
| Risk | Rs111033171(C;C) |
| Alt | Rs111033171(C;C) |
| Reference | Rs111033171(T;T) |
| Significance | Pathogenic |
| Disease | Familial dysautonomia not provided |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | Familial dysautonomia not provided |
| Reversed | 1 |
| HGVS | NC_000009.11:g.111662096A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006458.6, RCV000058928.1, |
