rs369521379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs369521379(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 37007063 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs369521379 |
dbSNP (classic) | rs369521379 |
ClinGen | rs369521379 |
ebi | rs369521379 |
HLI | rs369521379 |
Exac | rs369521379 |
Gnomad | rs369521379 |
Varsome | rs369521379 |
LitVar | rs369521379 |
Map | rs369521379 |
PheGenI | rs369521379 |
Biobank | rs369521379 |
1000 genomes | rs369521379 |
hgdp | rs369521379 |
ensembl | rs369521379 |
geneview | rs369521379 |
scholar | rs369521379 |
rs369521379 | |
pharmgkb | rs369521379 |
gwascentral | rs369521379 |
openSNP | rs369521379 |
23andMe | rs369521379 |
SNPshot | rs369521379 |
SNPdbe | rs369521379 |
MSV3d | rs369521379 |
GWAS Ctlg | rs369521379 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs369521379(A;A) |
Alt | rs369521379(A;A) |
Reference | Rs369521379(G;G) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.37048554G>A |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075718.2, RCV000132472.3, RCV000221643.1, |