rs760228510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs760228510(A;A) |
Make rs760228510(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 5999182 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs760228510 |
dbSNP (classic) | rs760228510 |
ClinGen | rs760228510 |
ebi | rs760228510 |
HLI | rs760228510 |
Exac | rs760228510 |
Gnomad | rs760228510 |
Varsome | rs760228510 |
LitVar | rs760228510 |
Map | rs760228510 |
PheGenI | rs760228510 |
Biobank | rs760228510 |
1000 genomes | rs760228510 |
hgdp | rs760228510 |
ensembl | rs760228510 |
geneview | rs760228510 |
scholar | rs760228510 |
rs760228510 | |
pharmgkb | rs760228510 |
gwascentral | rs760228510 |
openSNP | rs760228510 |
23andMe | rs760228510 |
SNPshot | rs760228510 |
SNPdbe | rs760228510 |
MSV3d | rs760228510 |
GWAS Ctlg | rs760228510 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs760228510(A;A) |
Alt | rs760228510(A;A) |
Reference | Rs760228510(G;G) |
Significance | Pathogenic |
Disease | not provided Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | not provided Lynch syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.6038813G>A |
CLNSRC | |
CLNACC | RCV000222317.1, RCV000473579.1, |