rs786201049
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs786201049(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47799221 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs786201049 |
dbSNP (classic) | rs786201049 |
ClinGen | rs786201049 |
ebi | rs786201049 |
HLI | rs786201049 |
Exac | rs786201049 |
Gnomad | rs786201049 |
Varsome | rs786201049 |
LitVar | rs786201049 |
Map | rs786201049 |
PheGenI | rs786201049 |
Biobank | rs786201049 |
1000 genomes | rs786201049 |
hgdp | rs786201049 |
ensembl | rs786201049 |
geneview | rs786201049 |
scholar | rs786201049 |
rs786201049 | |
pharmgkb | rs786201049 |
gwascentral | rs786201049 |
openSNP | rs786201049 |
23andMe | rs786201049 |
SNPshot | rs786201049 |
SNPdbe | rs786201049 |
MSV3d | rs786201049 |
GWAS Ctlg | rs786201049 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786201049(A;A) rs786201049(C;C) |
Alt | rs786201049(A;A) rs786201049(C;C) |
Reference | Rs786201049(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48026360G>A; NC_000002.11:g.48026360G>C |
CLNSRC | |
CLNACC | RCV000162446.2, RCV000228932.1, |