rs63751596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63751596(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37040294 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751596 |
dbSNP (classic) | rs63751596 |
ClinGen | rs63751596 |
ebi | rs63751596 |
HLI | rs63751596 |
Exac | rs63751596 |
Gnomad | rs63751596 |
Varsome | rs63751596 |
LitVar | rs63751596 |
Map | rs63751596 |
PheGenI | rs63751596 |
Biobank | rs63751596 |
1000 genomes | rs63751596 |
hgdp | rs63751596 |
ensembl | rs63751596 |
geneview | rs63751596 |
scholar | rs63751596 |
rs63751596 | |
pharmgkb | rs63751596 |
gwascentral | rs63751596 |
openSNP | rs63751596 |
23andMe | rs63751596 |
SNPshot | rs63751596 |
SNPdbe | rs63751596 |
MSV3d | rs63751596 |
GWAS Ctlg | rs63751596 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751596(C;C) rs63751596(T;T) |
Alt | rs63751596(C;C) rs63751596(T;T) |
Reference | Rs63751596(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37081785G>C; NC_000003.11:g.37081785G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000164556.2, RCV000075299.2, |