rs63750316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Probably a false positive (miscall); otherwise, Lynch syndrome, pathogenic mutation |
Make rs63750316(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37025874 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750316 |
dbSNP (classic) | rs63750316 |
ClinGen | rs63750316 |
ebi | rs63750316 |
HLI | rs63750316 |
Exac | rs63750316 |
Gnomad | rs63750316 |
Varsome | rs63750316 |
LitVar | rs63750316 |
Map | rs63750316 |
PheGenI | rs63750316 |
Biobank | rs63750316 |
1000 genomes | rs63750316 |
hgdp | rs63750316 |
ensembl | rs63750316 |
geneview | rs63750316 |
scholar | rs63750316 |
rs63750316 | |
pharmgkb | rs63750316 |
gwascentral | rs63750316 |
openSNP | rs63750316 |
23andMe | rs63750316 |
SNPshot | rs63750316 |
SNPdbe | rs63750316 |
MSV3d | rs63750316 |
GWAS Ctlg | rs63750316 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750316(T;T) |
Alt | rs63750316(T;T) |
Reference | Rs63750316(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37067365C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075164.2, |