rs74315397
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a Bardet-Biedl syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs74315397(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 10412723 |
| Gene | MKKS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315397 |
| dbSNP (classic) | rs74315397 |
| ClinGen | rs74315397 |
| ebi | rs74315397 |
| HLI | rs74315397 |
| Exac | rs74315397 |
| Gnomad | rs74315397 |
| Varsome | rs74315397 |
| LitVar | rs74315397 |
| Map | rs74315397 |
| PheGenI | rs74315397 |
| Biobank | rs74315397 |
| 1000 genomes | rs74315397 |
| hgdp | rs74315397 |
| ensembl | rs74315397 |
| geneview | rs74315397 |
| scholar | rs74315397 |
| rs74315397 | |
| pharmgkb | rs74315397 |
| gwascentral | rs74315397 |
| openSNP | rs74315397 |
| 23andMe | rs74315397 |
| SNPshot | rs74315397 |
| SNPdbe | rs74315397 |
| MSV3d | rs74315397 |
| GWAS Ctlg | rs74315397 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs74315397(A;A) rs74315397(C;C) |
| Alt | rs74315397(A;A) rs74315397(C;C) |
| Reference | Rs74315397(T;T) |
| Significance | Pathogenic |
| Disease | Bardet-Biedl syndrome 6 |
| Variation | info |
| Gene | MKKS |
| CLNDBN | Bardet-Biedl syndrome 6 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.10393371A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005637.3, |
