rs312262699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs312262699(-;A) |
Make rs312262699(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 56844040 |
Gene | DGKE |
is a | snp |
is | mentioned by |
dbSNP | rs312262699 |
dbSNP (classic) | rs312262699 |
ClinGen | rs312262699 |
ebi | rs312262699 |
HLI | rs312262699 |
Exac | rs312262699 |
Gnomad | rs312262699 |
Varsome | rs312262699 |
LitVar | rs312262699 |
Map | rs312262699 |
PheGenI | rs312262699 |
Biobank | rs312262699 |
1000 genomes | rs312262699 |
hgdp | rs312262699 |
ensembl | rs312262699 |
geneview | rs312262699 |
scholar | rs312262699 |
rs312262699 | |
pharmgkb | rs312262699 |
gwascentral | rs312262699 |
openSNP | rs312262699 |
23andMe | rs312262699 |
SNPshot | rs312262699 |
SNPdbe | rs312262699 |
MSV3d | rs312262699 |
GWAS Ctlg | rs312262699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262699(A;A) |
Alt | rs312262699(A;A) |
Reference | Rs312262699(-;-) |
Significance | Other |
Disease | Hemolytic uremic syndrome Atypical hemolytic uremic syndrome |
Variation | info |
Gene | DGKE |
CLNDBN | Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic uremic syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.54921401dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043568.5, RCV000122614.1, |