rs587778992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs587778992(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 37050606 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778992 |
dbSNP (classic) | rs587778992 |
ClinGen | rs587778992 |
ebi | rs587778992 |
HLI | rs587778992 |
Exac | rs587778992 |
Gnomad | rs587778992 |
Varsome | rs587778992 |
LitVar | rs587778992 |
Map | rs587778992 |
PheGenI | rs587778992 |
Biobank | rs587778992 |
1000 genomes | rs587778992 |
hgdp | rs587778992 |
ensembl | rs587778992 |
geneview | rs587778992 |
scholar | rs587778992 |
rs587778992 | |
pharmgkb | rs587778992 |
gwascentral | rs587778992 |
openSNP | rs587778992 |
23andMe | rs587778992 |
SNPshot | rs587778992 |
SNPdbe | rs587778992 |
MSV3d | rs587778992 |
GWAS Ctlg | rs587778992 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587778992(T;T) |
Alt | rs587778992(T;T) |
Reference | Rs587778992(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37092097C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075580.2, |