rs1085308057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
Chromosome | 2 |
Position | 47475244 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085308057 |
dbSNP (classic) | rs1085308057 |
ClinGen | rs1085308057 |
ebi | rs1085308057 |
HLI | rs1085308057 |
Exac | rs1085308057 |
Gnomad | rs1085308057 |
Varsome | rs1085308057 |
LitVar | rs1085308057 |
Map | rs1085308057 |
PheGenI | rs1085308057 |
Biobank | rs1085308057 |
1000 genomes | rs1085308057 |
hgdp | rs1085308057 |
ensembl | rs1085308057 |
geneview | rs1085308057 |
scholar | rs1085308057 |
rs1085308057 | |
pharmgkb | rs1085308057 |
gwascentral | rs1085308057 |
openSNP | rs1085308057 |
23andMe | rs1085308057 |
SNPshot | rs1085308057 |
SNPdbe | rs1085308057 |
MSV3d | rs1085308057 |
GWAS Ctlg | rs1085308057 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs1085308057(G;G) |
Alt | rs1085308057(G;G) |
Reference | Rs1085308057(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome I Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome I Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47702383A>G |
CLNSRC | |
CLNACC | RCV000490598.1, RCV000491547.1, |