rs763308607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | Lynch syndrome |
Make rs763308607(C;T) |
Make rs763308607(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 6004059 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs763308607 |
dbSNP (classic) | rs763308607 |
ClinGen | rs763308607 |
ebi | rs763308607 |
HLI | rs763308607 |
Exac | rs763308607 |
Gnomad | rs763308607 |
Varsome | rs763308607 |
LitVar | rs763308607 |
Map | rs763308607 |
PheGenI | rs763308607 |
Biobank | rs763308607 |
1000 genomes | rs763308607 |
hgdp | rs763308607 |
ensembl | rs763308607 |
geneview | rs763308607 |
scholar | rs763308607 |
rs763308607 | |
pharmgkb | rs763308607 |
gwascentral | rs763308607 |
openSNP | rs763308607 |
23andMe | rs763308607 |
SNPshot | rs763308607 |
SNPdbe | rs763308607 |
MSV3d | rs763308607 |
GWAS Ctlg | rs763308607 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs763308607(G;G) rs763308607(T;T) |
Alt | rs763308607(G;G) rs763308607(T;T) |
Reference | Rs763308607(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.6043690C>G |
CLNSRC | |
CLNACC | RCV000165585.1, RCV000484767.1, |