rs80338688
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338688(A;A) |
| Make rs80338688(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 72124177 |
| Gene | SOX9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338688 |
| dbSNP (classic) | rs80338688 |
| ClinGen | rs80338688 |
| ebi | rs80338688 |
| HLI | rs80338688 |
| Exac | rs80338688 |
| Gnomad | rs80338688 |
| Varsome | rs80338688 |
| LitVar | rs80338688 |
| Map | rs80338688 |
| PheGenI | rs80338688 |
| Biobank | rs80338688 |
| 1000 genomes | rs80338688 |
| hgdp | rs80338688 |
| ensembl | rs80338688 |
| geneview | rs80338688 |
| scholar | rs80338688 |
| rs80338688 | |
| pharmgkb | rs80338688 |
| gwascentral | rs80338688 |
| openSNP | rs80338688 |
| 23andMe | rs80338688 |
| SNPshot | rs80338688 |
| SNPdbe | rs80338688 |
| MSV3d | rs80338688 |
| GWAS Ctlg | rs80338688 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338688(A;A) rs80338688(G;G) rs80338688(T;T) |
| Alt | rs80338688(A;A) rs80338688(G;G) rs80338688(T;T) |
| Reference | Rs80338688(C;C) |
| Significance | Pathogenic |
| Disease | Camptomelic dysplasia not provided Campomelic dysplasia with autosomal sex reversal |
| Variation | info |
| Gene | SOX9 FLJ37644 |
| CLNDBN | Camptomelic dysplasia not provided Campomelic dysplasia with autosomal sex reversal |
| Reversed | 0 |
| HGVS | NC_000017.10:g.70120318C>A; NC_000017.10:g.70120318C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000020282.1, RCV000310390.1, RCV000002617.3, RCV000020283.1, RCV000321802.1, |
[PMID 15806394] A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
