rs778958318
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs778958318(G;G) |
Make rs778958318(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 210573338 |
Gene | CPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs778958318 |
dbSNP (classic) | rs778958318 |
ClinGen | rs778958318 |
ebi | rs778958318 |
HLI | rs778958318 |
Exac | rs778958318 |
Gnomad | rs778958318 |
Varsome | rs778958318 |
LitVar | rs778958318 |
Map | rs778958318 |
PheGenI | rs778958318 |
Biobank | rs778958318 |
1000 genomes | rs778958318 |
hgdp | rs778958318 |
ensembl | rs778958318 |
geneview | rs778958318 |
scholar | rs778958318 |
rs778958318 | |
pharmgkb | rs778958318 |
gwascentral | rs778958318 |
openSNP | rs778958318 |
23andMe | rs778958318 |
SNPshot | rs778958318 |
SNPdbe | rs778958318 |
MSV3d | rs778958318 |
GWAS Ctlg | rs778958318 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778958318(G;G) |
Alt | rs778958318(G;G) |
Reference | Rs778958318(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CPS1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.211438062T>G |
CLNSRC | |
CLNACC | RCV000185820.1, |