rs63751620
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37020312 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751620 |
dbSNP (classic) | rs63751620 |
ClinGen | rs63751620 |
ebi | rs63751620 |
HLI | rs63751620 |
Exac | rs63751620 |
Gnomad | rs63751620 |
Varsome | rs63751620 |
LitVar | rs63751620 |
Map | rs63751620 |
PheGenI | rs63751620 |
Biobank | rs63751620 |
1000 genomes | rs63751620 |
hgdp | rs63751620 |
ensembl | rs63751620 |
geneview | rs63751620 |
scholar | rs63751620 |
rs63751620 | |
pharmgkb | rs63751620 |
gwascentral | rs63751620 |
openSNP | rs63751620 |
23andMe | rs63751620 |
SNPshot | rs63751620 |
SNPdbe | rs63751620 |
MSV3d | rs63751620 |
GWAS Ctlg | rs63751620 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs63751620(T;T) rs63751620(TCCTGACAGTTT;TCCTGACAGTTT) |
Alt | Rs63751620(T;T) rs63751620(TCCTGACAGTTT;TCCTGACAGTTT) |
Reference | Rs63751620(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37061792_37061803dupTCCTGACAGTTT; NC_000003.11:g.37061803dupT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075919.2, RCV000075924.2, |