rs63749859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs63749859(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37000976 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63749859 |
dbSNP (classic) | rs63749859 |
ClinGen | rs63749859 |
ebi | rs63749859 |
HLI | rs63749859 |
Exac | rs63749859 |
Gnomad | rs63749859 |
Varsome | rs63749859 |
LitVar | rs63749859 |
Map | rs63749859 |
PheGenI | rs63749859 |
Biobank | rs63749859 |
1000 genomes | rs63749859 |
hgdp | rs63749859 |
ensembl | rs63749859 |
geneview | rs63749859 |
scholar | rs63749859 |
rs63749859 | |
pharmgkb | rs63749859 |
gwascentral | rs63749859 |
openSNP | rs63749859 |
23andMe | rs63749859 |
SNPshot | rs63749859 |
SNPdbe | rs63749859 |
MSV3d | rs63749859 |
GWAS Ctlg | rs63749859 |
Max Magnitude | 6 |
aka c.229T>C, p.Cys77Arg or C77R
ClinVar | |
---|---|
Risk | rs63749859(C;C) |
Alt | rs63749859(C;C) |
Reference | Rs63749859(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37042467T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075596.2, RCV000220766.1, |