rs144230667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs144230667(A;T) |
Make rs144230667(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 210600635 |
Gene | CPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs144230667 |
dbSNP (classic) | rs144230667 |
ClinGen | rs144230667 |
ebi | rs144230667 |
HLI | rs144230667 |
Exac | rs144230667 |
Gnomad | rs144230667 |
Varsome | rs144230667 |
LitVar | rs144230667 |
Map | rs144230667 |
PheGenI | rs144230667 |
Biobank | rs144230667 |
1000 genomes | rs144230667 |
hgdp | rs144230667 |
ensembl | rs144230667 |
geneview | rs144230667 |
scholar | rs144230667 |
rs144230667 | |
pharmgkb | rs144230667 |
gwascentral | rs144230667 |
openSNP | rs144230667 |
23andMe | rs144230667 |
SNPshot | rs144230667 |
SNPdbe | rs144230667 |
MSV3d | rs144230667 |
GWAS Ctlg | rs144230667 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144230667(T;T) |
Alt | rs144230667(T;T) |
Reference | Rs144230667(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CPS1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.211465359A>T |
CLNSRC | |
CLNACC | RCV000185817.1, |