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, | 
