rs35418374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35418374(C;T) |
Make rs35418374(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 70600892 |
Gene | PRF1 |
is a | snp |
is | mentioned by |
dbSNP | rs35418374 |
dbSNP (classic) | rs35418374 |
ClinGen | rs35418374 |
ebi | rs35418374 |
HLI | rs35418374 |
Exac | rs35418374 |
Gnomad | rs35418374 |
Varsome | rs35418374 |
LitVar | rs35418374 |
Map | rs35418374 |
PheGenI | rs35418374 |
Biobank | rs35418374 |
1000 genomes | rs35418374 |
hgdp | rs35418374 |
ensembl | rs35418374 |
geneview | rs35418374 |
scholar | rs35418374 |
rs35418374 | |
pharmgkb | rs35418374 |
gwascentral | rs35418374 |
openSNP | rs35418374 |
23andMe | rs35418374 |
SNPshot | rs35418374 |
SNPdbe | rs35418374 |
MSV3d | rs35418374 |
GWAS Ctlg | rs35418374 |
GMAF | 0.02112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35418374(T;T) |
Alt | rs35418374(T;T) |
Reference | Rs35418374(C;C) |
Significance | Pathogenic |
Disease | Aplastic anemia not specified Familial hemophagocytic lymphohistiocytosis not provided |
Variation | info |
Gene | PRF1 |
CLNDBN | Aplastic anemia not specified Familial hemophagocytic lymphohistiocytosis not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.72360648C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014723.23, RCV000242526.1, RCV000324231.1, RCV000425105.1, |