rs1060499556
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060499556(G;G) |
Make rs1060499556(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 70598601 |
Gene | PRF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499556 |
dbSNP (classic) | rs1060499556 |
ClinGen | rs1060499556 |
ebi | rs1060499556 |
HLI | rs1060499556 |
Exac | rs1060499556 |
Gnomad | rs1060499556 |
Varsome | rs1060499556 |
LitVar | rs1060499556 |
Map | rs1060499556 |
PheGenI | rs1060499556 |
Biobank | rs1060499556 |
1000 genomes | rs1060499556 |
hgdp | rs1060499556 |
ensembl | rs1060499556 |
geneview | rs1060499556 |
scholar | rs1060499556 |
rs1060499556 | |
pharmgkb | rs1060499556 |
gwascentral | rs1060499556 |
openSNP | rs1060499556 |
23andMe | rs1060499556 |
SNPshot | rs1060499556 |
SNPdbe | rs1060499556 |
MSV3d | rs1060499556 |
GWAS Ctlg | rs1060499556 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499556(G;G) |
Alt | rs1060499556(G;G) |
Reference | Rs1060499556(T;T) |
Significance | Probable-Pathogenic |
Disease | Hemophagocytic lymphohistiocytosis |
Variation | info |
Gene | PRF1 |
CLNDBN | Hemophagocytic lymphohistiocytosis, familial, 2 |
Reversed | 1 |
HGVS | NC_000010.10:g.72358357A>C |
CLNSRC | |
CLNACC | RCV000449644.1, |