rs63750084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs63750084(-;-) |
Make rs63750084(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47482791 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750084 |
dbSNP (classic) | rs63750084 |
ClinGen | rs63750084 |
ebi | rs63750084 |
HLI | rs63750084 |
Exac | rs63750084 |
Gnomad | rs63750084 |
Varsome | rs63750084 |
LitVar | rs63750084 |
Map | rs63750084 |
PheGenI | rs63750084 |
Biobank | rs63750084 |
1000 genomes | rs63750084 |
hgdp | rs63750084 |
ensembl | rs63750084 |
geneview | rs63750084 |
scholar | rs63750084 |
rs63750084 | |
pharmgkb | rs63750084 |
gwascentral | rs63750084 |
openSNP | rs63750084 |
23andMe | rs63750084 |
SNPshot | rs63750084 |
SNPdbe | rs63750084 |
MSV3d | rs63750084 |
GWAS Ctlg | rs63750084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750084(-;-) |
Alt | rs63750084(-;-) |
Reference | Rs63750084(A;A) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000002.11:g.47709930delA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076532.2, RCV000160633.2, RCV000490617.1, |