rs104895503
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104895503(A;G) |
| Make rs104895503(G;G) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 19 |
| Position | 54930571 |
| Gene | NCR1, NLRP7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895503 |
| dbSNP (classic) | rs104895503 |
| ClinGen | rs104895503 |
| ebi | rs104895503 |
| HLI | rs104895503 |
| Exac | rs104895503 |
| Gnomad | rs104895503 |
| Varsome | rs104895503 |
| LitVar | rs104895503 |
| Map | rs104895503 |
| PheGenI | rs104895503 |
| Biobank | rs104895503 |
| 1000 genomes | rs104895503 |
| hgdp | rs104895503 |
| ensembl | rs104895503 |
| geneview | rs104895503 |
| scholar | rs104895503 |
| rs104895503 | |
| pharmgkb | rs104895503 |
| gwascentral | rs104895503 |
| openSNP | rs104895503 |
| 23andMe | rs104895503 |
| SNPshot | rs104895503 |
| SNPdbe | rs104895503 |
| MSV3d | rs104895503 |
| GWAS Ctlg | rs104895503 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895503(G;G) |
| Alt | rs104895503(G;G) |
| Reference | Rs104895503(A;A) |
| Significance | Pathogenic |
| Disease | Hydatidiform mole |
| Variation | info |
| Gene | NLRP7 |
| CLNDBN | Hydatidiform mole |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55441939T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001655.5, |
[PMID 16462743] Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
