rs869312973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312973(-;GA) |
Make rs869312973(GA;GA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 8059829 |
Gene | C3AR1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312973 |
dbSNP (classic) | rs869312973 |
ClinGen | rs869312973 |
ebi | rs869312973 |
HLI | rs869312973 |
Exac | rs869312973 |
Gnomad | rs869312973 |
Varsome | rs869312973 |
LitVar | rs869312973 |
Map | rs869312973 |
PheGenI | rs869312973 |
Biobank | rs869312973 |
1000 genomes | rs869312973 |
hgdp | rs869312973 |
ensembl | rs869312973 |
geneview | rs869312973 |
scholar | rs869312973 |
rs869312973 | |
pharmgkb | rs869312973 |
gwascentral | rs869312973 |
openSNP | rs869312973 |
23andMe | rs869312973 |
SNPshot | rs869312973 |
SNPdbe | rs869312973 |
MSV3d | rs869312973 |
GWAS Ctlg | rs869312973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312973(GA;GA) |
Alt | rs869312973(GA;GA) |
Reference | Rs869312973(-;-) |
Significance | Probable-Pathogenic |
Disease | Atypical hemolytic-uremic syndrome 1 |
Variation | info |
Gene | C3AR1 |
CLNDBN | Atypical hemolytic-uremic syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.8212426_8212427dupTC |
CLNSRC | |
CLNACC | RCV000210740.1, |