rs959968589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
(G;G) | 0 | common/normal |
Make rs959968589(A;A) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 17 |
Position | 75843827 |
Gene | UNC13D |
is a | snp |
is | mentioned by |
dbSNP | rs959968589 |
dbSNP (classic) | rs959968589 |
ClinGen | rs959968589 |
ebi | rs959968589 |
HLI | rs959968589 |
Exac | rs959968589 |
Gnomad | rs959968589 |
Varsome | rs959968589 |
LitVar | rs959968589 |
Map | rs959968589 |
PheGenI | rs959968589 |
Biobank | rs959968589 |
1000 genomes | rs959968589 |
hgdp | rs959968589 |
ensembl | rs959968589 |
geneview | rs959968589 |
scholar | rs959968589 |
rs959968589 | |
pharmgkb | rs959968589 |
gwascentral | rs959968589 |
openSNP | rs959968589 |
23andMe | rs959968589 |
SNPshot | rs959968589 |
SNPdbe | rs959968589 |
MSV3d | rs959968589 |
GWAS Ctlg | rs959968589 |
Max Magnitude | 3 |
aka c.118-308C>T
considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar