rs63751220
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs63751220(C;C) |
| Make rs63751220(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 96145065 |
| Gene | GDF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751220 |
| dbSNP (classic) | rs63751220 |
| ClinGen | rs63751220 |
| ebi | rs63751220 |
| HLI | rs63751220 |
| Exac | rs63751220 |
| Gnomad | rs63751220 |
| Varsome | rs63751220 |
| LitVar | rs63751220 |
| Map | rs63751220 |
| PheGenI | rs63751220 |
| Biobank | rs63751220 |
| 1000 genomes | rs63751220 |
| hgdp | rs63751220 |
| ensembl | rs63751220 |
| geneview | rs63751220 |
| scholar | rs63751220 |
| rs63751220 | |
| pharmgkb | rs63751220 |
| gwascentral | rs63751220 |
| openSNP | rs63751220 |
| 23andMe | rs63751220 |
| SNPshot | rs63751220 |
| SNPdbe | rs63751220 |
| MSV3d | rs63751220 |
| GWAS Ctlg | rs63751220 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751220(C;C) |
| Alt | rs63751220(C;C) |
| Reference | Rs63751220(T;T) |
| Significance | Pathogenic |
| Disease | Klippel-Feil syndrome 1 not specified |
| Variation | info |
| Gene | GDF6 |
| CLNDBN | Klippel-Feil syndrome 1, autosomal dominant not specified |
| Reversed | 1 |
| HGVS | NC_000008.10:g.97157293A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008878.2, RCV000255695.1, |
[PMID 18425797] Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
