rs63749979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs63749979(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37047556 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63749979 |
dbSNP (classic) | rs63749979 |
ClinGen | rs63749979 |
ebi | rs63749979 |
HLI | rs63749979 |
Exac | rs63749979 |
Gnomad | rs63749979 |
Varsome | rs63749979 |
LitVar | rs63749979 |
Map | rs63749979 |
PheGenI | rs63749979 |
Biobank | rs63749979 |
1000 genomes | rs63749979 |
hgdp | rs63749979 |
ensembl | rs63749979 |
geneview | rs63749979 |
scholar | rs63749979 |
rs63749979 | |
pharmgkb | rs63749979 |
gwascentral | rs63749979 |
openSNP | rs63749979 |
23andMe | rs63749979 |
SNPshot | rs63749979 |
SNPdbe | rs63749979 |
MSV3d | rs63749979 |
GWAS Ctlg | rs63749979 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749979(-;-) |
Alt | rs63749979(-;-) |
Reference | Rs63749979(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37089047delT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075361.2, |