rs752858869
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
(T;T) | 0 | common/normal |
Make rs752858869(A;A) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 10 |
Position | 70598640 |
Gene | PRF1 |
is a | snp |
is | mentioned by |
dbSNP | rs752858869 |
dbSNP (classic) | rs752858869 |
ClinGen | rs752858869 |
ebi | rs752858869 |
HLI | rs752858869 |
Exac | rs752858869 |
Gnomad | rs752858869 |
Varsome | rs752858869 |
LitVar | rs752858869 |
Map | rs752858869 |
PheGenI | rs752858869 |
Biobank | rs752858869 |
1000 genomes | rs752858869 |
hgdp | rs752858869 |
ensembl | rs752858869 |
geneview | rs752858869 |
scholar | rs752858869 |
rs752858869 | |
pharmgkb | rs752858869 |
gwascentral | rs752858869 |
openSNP | rs752858869 |
23andMe | rs752858869 |
SNPshot | rs752858869 |
SNPdbe | rs752858869 |
MSV3d | rs752858869 |
GWAS Ctlg | rs752858869 |
Max Magnitude | 3 |
c.1081A>T (p.Arg361Trp)