rs373175587
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs373175587(A;T) |
| Make rs373175587(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 28130164 |
| Gene | HERC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373175587 |
| dbSNP (classic) | rs373175587 |
| ClinGen | rs373175587 |
| ebi | rs373175587 |
| HLI | rs373175587 |
| Exac | rs373175587 |
| Gnomad | rs373175587 |
| Varsome | rs373175587 |
| LitVar | rs373175587 |
| Map | rs373175587 |
| PheGenI | rs373175587 |
| Biobank | rs373175587 |
| 1000 genomes | rs373175587 |
| hgdp | rs373175587 |
| ensembl | rs373175587 |
| geneview | rs373175587 |
| scholar | rs373175587 |
| rs373175587 | |
| pharmgkb | rs373175587 |
| gwascentral | rs373175587 |
| openSNP | rs373175587 |
| 23andMe | rs373175587 |
| SNPshot | rs373175587 |
| SNPdbe | rs373175587 |
| MSV3d | rs373175587 |
| GWAS Ctlg | rs373175587 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373175587(T;T) |
| Alt | rs373175587(T;T) |
| Reference | Rs373175587(A;A) |
| Significance | Pathogenic |
| Disease | not specified Mental retardation |
| Variation | info |
| Gene | HERC2 |
| CLNDBN | not specified Mental retardation, autosomal recessive 38 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28375310A>T |
| CLNSRC | |
| CLNACC | RCV000454954.1, RCV000490894.1, |
