rs751161742
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs751161742(G;G) |
Make rs751161742(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 70598384 |
Gene | PRF1 |
is a | snp |
is | mentioned by |
dbSNP | rs751161742 |
dbSNP (classic) | rs751161742 |
ClinGen | rs751161742 |
ebi | rs751161742 |
HLI | rs751161742 |
Exac | rs751161742 |
Gnomad | rs751161742 |
Varsome | rs751161742 |
LitVar | rs751161742 |
Map | rs751161742 |
PheGenI | rs751161742 |
Biobank | rs751161742 |
1000 genomes | rs751161742 |
hgdp | rs751161742 |
ensembl | rs751161742 |
geneview | rs751161742 |
scholar | rs751161742 |
rs751161742 | |
pharmgkb | rs751161742 |
gwascentral | rs751161742 |
openSNP | rs751161742 |
23andMe | rs751161742 |
SNPshot | rs751161742 |
SNPdbe | rs751161742 |
MSV3d | rs751161742 |
GWAS Ctlg | rs751161742 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751161742(G;G) |
Alt | rs751161742(G;G) |
Reference | Rs751161742(T;T) |
Significance | Probable-Pathogenic |
Disease | Hemophagocytic lymphohistiocytosis |
Variation | info |
Gene | PRF1 |
CLNDBN | Hemophagocytic lymphohistiocytosis, familial, 2 |
Reversed | 0 |
HGVS | NC_000010.10:g.72358140T>G |
CLNSRC | |
CLNACC | RCV000196330.1, |