rs104895548
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104895548(G;G) |
| Make rs104895548(G;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 19 |
| Position | 54939626 |
| Gene | NLRP7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895548 |
| dbSNP (classic) | rs104895548 |
| ClinGen | rs104895548 |
| ebi | rs104895548 |
| HLI | rs104895548 |
| Exac | rs104895548 |
| Gnomad | rs104895548 |
| Varsome | rs104895548 |
| LitVar | rs104895548 |
| Map | rs104895548 |
| PheGenI | rs104895548 |
| Biobank | rs104895548 |
| 1000 genomes | rs104895548 |
| hgdp | rs104895548 |
| ensembl | rs104895548 |
| geneview | rs104895548 |
| scholar | rs104895548 |
| rs104895548 | |
| pharmgkb | rs104895548 |
| gwascentral | rs104895548 |
| openSNP | rs104895548 |
| 23andMe | rs104895548 |
| SNPshot | rs104895548 |
| SNPdbe | rs104895548 |
| MSV3d | rs104895548 |
| GWAS Ctlg | rs104895548 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895548(G;G) |
| Alt | rs104895548(G;G) |
| Reference | Rs104895548(T;T) |
| Significance | Pathogenic |
| Disease | Hydatidiform mole |
| Variation | info |
| Gene | NLRP7 |
| CLNDBN | Hydatidiform mole |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55450994A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001659.4, |
[PMID 19246479] Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.
