rs587778984
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs587778984(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 37050539 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778984 |
dbSNP (classic) | rs587778984 |
ClinGen | rs587778984 |
ebi | rs587778984 |
HLI | rs587778984 |
Exac | rs587778984 |
Gnomad | rs587778984 |
Varsome | rs587778984 |
LitVar | rs587778984 |
Map | rs587778984 |
PheGenI | rs587778984 |
Biobank | rs587778984 |
1000 genomes | rs587778984 |
hgdp | rs587778984 |
ensembl | rs587778984 |
geneview | rs587778984 |
scholar | rs587778984 |
rs587778984 | |
pharmgkb | rs587778984 |
gwascentral | rs587778984 |
openSNP | rs587778984 |
23andMe | rs587778984 |
SNPshot | rs587778984 |
SNPdbe | rs587778984 |
MSV3d | rs587778984 |
GWAS Ctlg | rs587778984 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587778984(T;T) |
Alt | rs587778984(T;T) |
Reference | Rs587778984(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37092030dupT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075561.2, |