rs63750052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6 | Lynch syndrome, pathogenic mutation |
(TG;TG) | 0 | common in clinvar |
Make rs63750052(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37000978 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750052 |
dbSNP (classic) | rs63750052 |
ClinGen | rs63750052 |
ebi | rs63750052 |
HLI | rs63750052 |
Exac | rs63750052 |
Gnomad | rs63750052 |
Varsome | rs63750052 |
LitVar | rs63750052 |
Map | rs63750052 |
PheGenI | rs63750052 |
Biobank | rs63750052 |
1000 genomes | rs63750052 |
hgdp | rs63750052 |
ensembl | rs63750052 |
geneview | rs63750052 |
scholar | rs63750052 |
rs63750052 | |
pharmgkb | rs63750052 |
gwascentral | rs63750052 |
openSNP | rs63750052 |
23andMe | rs63750052 |
SNPshot | rs63750052 |
SNPdbe | rs63750052 |
MSV3d | rs63750052 |
GWAS Ctlg | rs63750052 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750052(-;-) |
Alt | rs63750052(-;-) |
Reference | Rs63750052(TG;TG) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37042469_37042470delTG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075599.2, |