rs312262697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs312262697(C;T) |
Make rs312262697(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 56848807 |
Gene | DGKE |
is a | snp |
is | mentioned by |
dbSNP | rs312262697 |
dbSNP (classic) | rs312262697 |
ClinGen | rs312262697 |
ebi | rs312262697 |
HLI | rs312262697 |
Exac | rs312262697 |
Gnomad | rs312262697 |
Varsome | rs312262697 |
LitVar | rs312262697 |
Map | rs312262697 |
PheGenI | rs312262697 |
Biobank | rs312262697 |
1000 genomes | rs312262697 |
hgdp | rs312262697 |
ensembl | rs312262697 |
geneview | rs312262697 |
scholar | rs312262697 |
rs312262697 | |
pharmgkb | rs312262697 |
gwascentral | rs312262697 |
openSNP | rs312262697 |
23andMe | rs312262697 |
SNPshot | rs312262697 |
SNPdbe | rs312262697 |
MSV3d | rs312262697 |
GWAS Ctlg | rs312262697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262697(T;T) |
Alt | rs312262697(T;T) |
Reference | Rs312262697(C;C) |
Significance | Probable-Pathogenic |
Disease | Atypical hemolytic uremic syndrome |
Variation | info |
Gene | DGKE |
CLNDBN | Atypical hemolytic uremic syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.54926168C>T |
CLNSRC | ClinVar |
CLNACC | RCV000122611.1, |