rs587779120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AACA) | 6 | Lynch syndrome, pathogenic mutation |
(AAAC;AAAC) | 0 | common in clinvar |
(AACA;AACA) | 0 | common/normal |
Make rs587779120(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47475247 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587779120 |
dbSNP (classic) | rs587779120 |
ClinGen | rs587779120 |
ebi | rs587779120 |
HLI | rs587779120 |
Exac | rs587779120 |
Gnomad | rs587779120 |
Varsome | rs587779120 |
LitVar | rs587779120 |
Map | rs587779120 |
PheGenI | rs587779120 |
Biobank | rs587779120 |
1000 genomes | rs587779120 |
hgdp | rs587779120 |
ensembl | rs587779120 |
geneview | rs587779120 |
scholar | rs587779120 |
rs587779120 | |
pharmgkb | rs587779120 |
gwascentral | rs587779120 |
openSNP | rs587779120 |
23andMe | rs587779120 |
SNPshot | rs587779120 |
SNPdbe | rs587779120 |
MSV3d | rs587779120 |
GWAS Ctlg | rs587779120 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587779120(-;-) |
Alt | rs587779120(-;-) |
Reference | Rs587779120(AAAC;AAAC) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47702386_47702389delAACA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076329.2, RCV000202244.1, |