rs73415876
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs73415876(A;A) |
| Make rs73415876(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 37983536 |
| Gene | POLR2F, SOX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs73415876 |
| dbSNP (classic) | rs73415876 |
| ClinGen | rs73415876 |
| ebi | rs73415876 |
| HLI | rs73415876 |
| Exac | rs73415876 |
| Gnomad | rs73415876 |
| Varsome | rs73415876 |
| LitVar | rs73415876 |
| Map | rs73415876 |
| PheGenI | rs73415876 |
| Biobank | rs73415876 |
| 1000 genomes | rs73415876 |
| hgdp | rs73415876 |
| ensembl | rs73415876 |
| geneview | rs73415876 |
| scholar | rs73415876 |
| rs73415876 | |
| pharmgkb | rs73415876 |
| gwascentral | rs73415876 |
| openSNP | rs73415876 |
| 23andMe | rs73415876 |
| SNPshot | rs73415876 |
| SNPdbe | rs73415876 |
| MSV3d | rs73415876 |
| GWAS Ctlg | rs73415876 |
| GMAF | 0.03352 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs73415876(A;A) rs73415876(C;C) rs73415876(T;T) |
| Alt | rs73415876(A;A) rs73415876(C;C) rs73415876(T;T) |
| Reference | Rs73415876(G;G) |
| Significance | Pathogenic |
| Disease | not specified PCWH Syndrome Waardenburg syndrome not provided Waardenburg syndrome type 4C |
| Variation | info |
| Gene | SOX10 POLR2F |
| CLNDBN | not specified PCWH Syndrome Waardenburg syndrome not provided Waardenburg syndrome type 4C |
| Reversed | 0 |
| HGVS | NC_000022.10:g.38379543G>A; NC_000022.10:g.38379543G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000220081.2, RCV000312275.1, RCV000369250.1, RCV000431231.1, RCV000007818.2, |
