rs587782074
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587782074(G;T) |
Make rs587782074(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 6008996 |
Gene | AIMP2, PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782074 |
dbSNP (classic) | rs587782074 |
ClinGen | rs587782074 |
ebi | rs587782074 |
HLI | rs587782074 |
Exac | rs587782074 |
Gnomad | rs587782074 |
Varsome | rs587782074 |
LitVar | rs587782074 |
Map | rs587782074 |
PheGenI | rs587782074 |
Biobank | rs587782074 |
1000 genomes | rs587782074 |
hgdp | rs587782074 |
ensembl | rs587782074 |
geneview | rs587782074 |
scholar | rs587782074 |
rs587782074 | |
pharmgkb | rs587782074 |
gwascentral | rs587782074 |
openSNP | rs587782074 |
23andMe | rs587782074 |
SNPshot | rs587782074 |
SNPdbe | rs587782074 |
MSV3d | rs587782074 |
GWAS Ctlg | rs587782074 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782074(T;T) |
Alt | rs587782074(T;T) |
Reference | Rs587782074(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PMS2 AIMP2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.6048627C>A |
CLNSRC | |
CLNACC | RCV000130565.2, RCV000479138.1, |