rs587780057
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587780057(A;A) |
Make rs587780057(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 5973465 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587780057 |
dbSNP (classic) | rs587780057 |
ClinGen | rs587780057 |
ebi | rs587780057 |
HLI | rs587780057 |
Exac | rs587780057 |
Gnomad | rs587780057 |
Varsome | rs587780057 |
LitVar | rs587780057 |
Map | rs587780057 |
PheGenI | rs587780057 |
Biobank | rs587780057 |
1000 genomes | rs587780057 |
hgdp | rs587780057 |
ensembl | rs587780057 |
geneview | rs587780057 |
scholar | rs587780057 |
rs587780057 | |
pharmgkb | rs587780057 |
gwascentral | rs587780057 |
openSNP | rs587780057 |
23andMe | rs587780057 |
SNPshot | rs587780057 |
SNPdbe | rs587780057 |
MSV3d | rs587780057 |
GWAS Ctlg | rs587780057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780057(A;A) |
Alt | rs587780057(A;A) |
Reference | Rs587780057(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.6013096C>T |
CLNSRC | |
CLNACC | RCV000225713.1, |