rs587778973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | Likely miscall in Ancestry v2c data; otherwise, Lynch syndrome, pathogenic mutation |
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common/normal |
Make rs587778973(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 37000954 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778973 |
dbSNP (classic) | rs587778973 |
ClinGen | rs587778973 |
ebi | rs587778973 |
HLI | rs587778973 |
Exac | rs587778973 |
Gnomad | rs587778973 |
Varsome | rs587778973 |
LitVar | rs587778973 |
Map | rs587778973 |
PheGenI | rs587778973 |
Biobank | rs587778973 |
1000 genomes | rs587778973 |
hgdp | rs587778973 |
ensembl | rs587778973 |
geneview | rs587778973 |
scholar | rs587778973 |
rs587778973 | |
pharmgkb | rs587778973 |
gwascentral | rs587778973 |
openSNP | rs587778973 |
23andMe | rs587778973 |
SNPshot | rs587778973 |
SNPdbe | rs587778973 |
MSV3d | rs587778973 |
GWAS Ctlg | rs587778973 |
Max Magnitude | 6 |
aka c.208-1_208delGA
ClinVar | |
---|---|
Risk | rs587778973(-;-) |
Alt | rs587778973(-;-) |
Reference | Rs587778973(AG;AG) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37042445_37042446delGA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075515.2, |