rs63750145
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs63750145(-;A) |
Make rs63750145(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47482791 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750145 |
dbSNP (classic) | rs63750145 |
ClinGen | rs63750145 |
ebi | rs63750145 |
HLI | rs63750145 |
Exac | rs63750145 |
Gnomad | rs63750145 |
Varsome | rs63750145 |
LitVar | rs63750145 |
Map | rs63750145 |
PheGenI | rs63750145 |
Biobank | rs63750145 |
1000 genomes | rs63750145 |
hgdp | rs63750145 |
ensembl | rs63750145 |
geneview | rs63750145 |
scholar | rs63750145 |
rs63750145 | |
pharmgkb | rs63750145 |
gwascentral | rs63750145 |
openSNP | rs63750145 |
23andMe | rs63750145 |
SNPshot | rs63750145 |
SNPdbe | rs63750145 |
MSV3d | rs63750145 |
GWAS Ctlg | rs63750145 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750145(A;A) |
Alt | rs63750145(A;A) |
Reference | Rs63750145(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome Lynch syndrome I |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000002.11:g.47709930dupA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076533.2, RCV000490583.1, |