rs587779185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TCTG) | 6 | Lynch syndrome, pathogenic mutation |
(CTGT;CTGT) | 0 | common in clinvar |
(TCTG;TCTG) | 0 | common in clinvar |
Make rs587779185(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47414287 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587779185 |
dbSNP (classic) | rs587779185 |
ClinGen | rs587779185 |
ebi | rs587779185 |
HLI | rs587779185 |
Exac | rs587779185 |
Gnomad | rs587779185 |
Varsome | rs587779185 |
LitVar | rs587779185 |
Map | rs587779185 |
PheGenI | rs587779185 |
Biobank | rs587779185 |
1000 genomes | rs587779185 |
hgdp | rs587779185 |
ensembl | rs587779185 |
geneview | rs587779185 |
scholar | rs587779185 |
rs587779185 | |
pharmgkb | rs587779185 |
gwascentral | rs587779185 |
openSNP | rs587779185 |
23andMe | rs587779185 |
SNPshot | rs587779185 |
SNPdbe | rs587779185 |
MSV3d | rs587779185 |
GWAS Ctlg | rs587779185 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587779185(-;-) Rs587779185(CTGT;CTGT) rs587779185(GTCT;GTCT) |
Alt | rs587779185(-;-) Rs587779185(CTGT;CTGT) rs587779185(GTCT;GTCT) |
Reference | Rs587779185(TCTG;TCTG) |
Significance | Pathogenic |
Disease | Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47641426_47641429delTCTG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076726.2, RCV000410668.1, RCV000491865.1, |