rs35953626
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs35953626(C;T) |
| Make rs35953626(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 5753797 |
| Gene | EVC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35953626 |
| dbSNP (classic) | rs35953626 |
| ClinGen | rs35953626 |
| ebi | rs35953626 |
| HLI | rs35953626 |
| Exac | rs35953626 |
| Gnomad | rs35953626 |
| Varsome | rs35953626 |
| LitVar | rs35953626 |
| Map | rs35953626 |
| PheGenI | rs35953626 |
| Biobank | rs35953626 |
| 1000 genomes | rs35953626 |
| hgdp | rs35953626 |
| ensembl | rs35953626 |
| geneview | rs35953626 |
| scholar | rs35953626 |
| rs35953626 | |
| pharmgkb | rs35953626 |
| gwascentral | rs35953626 |
| openSNP | rs35953626 |
| 23andMe | rs35953626 |
| SNPshot | rs35953626 |
| SNPdbe | rs35953626 |
| MSV3d | rs35953626 |
| GWAS Ctlg | rs35953626 |
| GMAF | 0.05464 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs35953626(T;T) |
| Alt | rs35953626(T;T) |
| Reference | Rs35953626(C;C) |
| Significance | Non-pathogenic |
| Disease | Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome |
| Variation | info |
| Gene | EVC |
| CLNDBN | Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome |
| Reversed | 1 |
| HGVS | NC_000004.11:g.5755524G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005670.5, RCV000248324.2, RCV000340475.1, |
