rs863224497
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs863224497(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 5987189 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224497 |
dbSNP (classic) | rs863224497 |
ClinGen | rs863224497 |
ebi | rs863224497 |
HLI | rs863224497 |
Exac | rs863224497 |
Gnomad | rs863224497 |
Varsome | rs863224497 |
LitVar | rs863224497 |
Map | rs863224497 |
PheGenI | rs863224497 |
Biobank | rs863224497 |
1000 genomes | rs863224497 |
hgdp | rs863224497 |
ensembl | rs863224497 |
geneview | rs863224497 |
scholar | rs863224497 |
rs863224497 | |
pharmgkb | rs863224497 |
gwascentral | rs863224497 |
openSNP | rs863224497 |
23andMe | rs863224497 |
SNPshot | rs863224497 |
SNPdbe | rs863224497 |
MSV3d | rs863224497 |
GWAS Ctlg | rs863224497 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs863224497(-;-) |
Alt | rs863224497(-;-) |
Reference | Rs863224497(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.6026820delC |
CLNSRC | |
CLNACC | RCV000199929.2, RCV000216824.1, |