rs281864943
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs281864943(-;GCGGTGCAGCCGAAGGAG) |
Make rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47403212 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs281864943 |
dbSNP (classic) | rs281864943 |
ClinGen | rs281864943 |
ebi | rs281864943 |
HLI | rs281864943 |
Exac | rs281864943 |
Gnomad | rs281864943 |
Varsome | rs281864943 |
LitVar | rs281864943 |
Map | rs281864943 |
PheGenI | rs281864943 |
Biobank | rs281864943 |
1000 genomes | rs281864943 |
hgdp | rs281864943 |
ensembl | rs281864943 |
geneview | rs281864943 |
scholar | rs281864943 |
rs281864943 | |
pharmgkb | rs281864943 |
gwascentral | rs281864943 |
openSNP | rs281864943 |
23andMe | rs281864943 |
SNPshot | rs281864943 |
SNPdbe | rs281864943 |
MSV3d | rs281864943 |
GWAS Ctlg | rs281864943 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs281864943(G;G) rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG) |
Alt | Rs281864943(G;G) rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG) |
Reference | Rs281864943(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47630334_47630351dup18; NC_000002.11:g.47630351dupG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076618.2, RCV000220732.1, RCV000221366.1, RCV000076420.2, |