rs201716417
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201716417(C;T) |
Make rs201716417(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 210612132 |
Gene | CPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs201716417 |
dbSNP (classic) | rs201716417 |
ClinGen | rs201716417 |
ebi | rs201716417 |
HLI | rs201716417 |
Exac | rs201716417 |
Gnomad | rs201716417 |
Varsome | rs201716417 |
LitVar | rs201716417 |
Map | rs201716417 |
PheGenI | rs201716417 |
Biobank | rs201716417 |
1000 genomes | rs201716417 |
hgdp | rs201716417 |
ensembl | rs201716417 |
geneview | rs201716417 |
scholar | rs201716417 |
rs201716417 | |
pharmgkb | rs201716417 |
gwascentral | rs201716417 |
openSNP | rs201716417 |
23andMe | rs201716417 |
SNPshot | rs201716417 |
SNPdbe | rs201716417 |
MSV3d | rs201716417 |
GWAS Ctlg | rs201716417 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201716417(A;A) rs201716417(G;G) rs201716417(T;T) |
Alt | rs201716417(A;A) rs201716417(G;G) rs201716417(T;T) |
Reference | Rs201716417(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CPS1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.211476856C>A |
CLNSRC | |
CLNACC | RCV000185819.1, |