rs63749830
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63749830(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47480812 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63749830 |
dbSNP (classic) | rs63749830 |
ClinGen | rs63749830 |
ebi | rs63749830 |
HLI | rs63749830 |
Exac | rs63749830 |
Gnomad | rs63749830 |
Varsome | rs63749830 |
LitVar | rs63749830 |
Map | rs63749830 |
PheGenI | rs63749830 |
Biobank | rs63749830 |
1000 genomes | rs63749830 |
hgdp | rs63749830 |
ensembl | rs63749830 |
geneview | rs63749830 |
scholar | rs63749830 |
rs63749830 | |
pharmgkb | rs63749830 |
gwascentral | rs63749830 |
openSNP | rs63749830 |
23andMe | rs63749830 |
SNPshot | rs63749830 |
SNPdbe | rs63749830 |
MSV3d | rs63749830 |
GWAS Ctlg | rs63749830 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749830(A;A) rs63749830(T;T) |
Alt | rs63749830(A;A) rs63749830(T;T) |
Reference | Rs63749830(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47707951G>A; NC_000002.11:g.47707951G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000122986.1, RCV000076506.2, |