rs63751031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63751031(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37028863 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751031 |
dbSNP (classic) | rs63751031 |
ClinGen | rs63751031 |
ebi | rs63751031 |
HLI | rs63751031 |
Exac | rs63751031 |
Gnomad | rs63751031 |
Varsome | rs63751031 |
LitVar | rs63751031 |
Map | rs63751031 |
PheGenI | rs63751031 |
Biobank | rs63751031 |
1000 genomes | rs63751031 |
hgdp | rs63751031 |
ensembl | rs63751031 |
geneview | rs63751031 |
scholar | rs63751031 |
rs63751031 | |
pharmgkb | rs63751031 |
gwascentral | rs63751031 |
openSNP | rs63751031 |
23andMe | rs63751031 |
SNPshot | rs63751031 |
SNPdbe | rs63751031 |
MSV3d | rs63751031 |
GWAS Ctlg | rs63751031 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751031(C;C) |
Alt | rs63751031(C;C) |
Reference | Rs63751031(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37070354dupC |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075227.2, RCV000162490.2, RCV000201993.1, RCV000412044.1, |