rs35947132
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35947132(A;A) |
| Make rs35947132(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 70600631 |
| Gene | PRF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35947132 |
| dbSNP (classic) | rs35947132 |
| ClinGen | rs35947132 |
| ebi | rs35947132 |
| HLI | rs35947132 |
| Exac | rs35947132 |
| Gnomad | rs35947132 |
| Varsome | rs35947132 |
| LitVar | rs35947132 |
| Map | rs35947132 |
| PheGenI | rs35947132 |
| Biobank | rs35947132 |
| 1000 genomes | rs35947132 |
| hgdp | rs35947132 |
| ensembl | rs35947132 |
| geneview | rs35947132 |
| scholar | rs35947132 |
| rs35947132 | |
| pharmgkb | rs35947132 |
| gwascentral | rs35947132 |
| openSNP | rs35947132 |
| 23andMe | rs35947132 |
| SNPshot | rs35947132 |
| SNPdbe | rs35947132 |
| MSV3d | rs35947132 |
| GWAS Ctlg | rs35947132 |
| GMAF | 0.02158 |
| Max Magnitude | 0 |
c.272C>T (p.Ala91Val or A91V)
| ClinVar | |
|---|---|
| Risk | rs35947132(A;A) |
| Alt | rs35947132(A;A) |
| Reference | Rs35947132(G;G) |
| Significance | Pathogenic |
| Disease | Hemophagocytic lymphohistiocytosis not provided Familial hemophagocytic lymphohistiocytosis not specified |
| Variation | info |
| Gene | PRF1 |
| CLNDBN | Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to not provided Familial hemophagocytic lymphohistiocytosis not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.72360387G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014719.4, RCV000224458.1, RCV000319668.1, RCV000456018.1, |
[PMID 18661762
] Macrophage activation syndrome in 13 children with systemic-onset juvenile idiopathic arthritis.
[PMID 23528102] Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients
