rs63751615
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
(T;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37012098 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751615 |
dbSNP (classic) | rs63751615 |
ClinGen | rs63751615 |
ebi | rs63751615 |
HLI | rs63751615 |
Exac | rs63751615 |
Gnomad | rs63751615 |
Varsome | rs63751615 |
LitVar | rs63751615 |
Map | rs63751615 |
PheGenI | rs63751615 |
Biobank | rs63751615 |
1000 genomes | rs63751615 |
hgdp | rs63751615 |
ensembl | rs63751615 |
geneview | rs63751615 |
scholar | rs63751615 |
rs63751615 | |
pharmgkb | rs63751615 |
gwascentral | rs63751615 |
openSNP | rs63751615 |
23andMe | rs63751615 |
SNPshot | rs63751615 |
SNPdbe | rs63751615 |
MSV3d | rs63751615 |
GWAS Ctlg | rs63751615 |
Merged from | Rs121912958 |
Max Magnitude | 6 |
rs63751615 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 9927033]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
See also OMIM 120436.0010
ClinVar | |
---|---|
Risk | Rs63751615(T;T) |
Alt | Rs63751615(T;T) |
Reference | Rs63751615(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37053589C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018616.28, RCV000018617.28, RCV000075801.2, RCV000115485.5, RCV000202205.2, |