rs587779182
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6 | Likely miscall in 23andMe v5 data; otherwise, Lynch syndrome, pathogenic mutation |
(GT;GT) | 0 | common in clinvar |
(TG;TG) | 0 | common/normal |
Make rs587779182(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47403114 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587779182 |
dbSNP (classic) | rs587779182 |
ClinGen | rs587779182 |
ebi | rs587779182 |
HLI | rs587779182 |
Exac | rs587779182 |
Gnomad | rs587779182 |
Varsome | rs587779182 |
LitVar | rs587779182 |
Map | rs587779182 |
PheGenI | rs587779182 |
Biobank | rs587779182 |
1000 genomes | rs587779182 |
hgdp | rs587779182 |
ensembl | rs587779182 |
geneview | rs587779182 |
scholar | rs587779182 |
rs587779182 | |
pharmgkb | rs587779182 |
gwascentral | rs587779182 |
openSNP | rs587779182 |
23andMe | rs587779182 |
SNPshot | rs587779182 |
SNPdbe | rs587779182 |
MSV3d | rs587779182 |
GWAS Ctlg | rs587779182 |
Max Magnitude | 6 |
aka c.-68-10_-68-9delTG
ClinVar | |
---|---|
Risk | rs587779182(-;-) |
Alt | rs587779182(-;-) |
Reference | Rs587779182(GT;GT) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47630253_47630254delTG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075989.2, |