rs63750364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Lynch syndrome, pathogenic mutation |
(-;T) | 6 | Lynch syndrome |
Make rs63750364(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47412455 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750364 |
dbSNP (classic) | rs63750364 |
ClinGen | rs63750364 |
ebi | rs63750364 |
HLI | rs63750364 |
Exac | rs63750364 |
Gnomad | rs63750364 |
Varsome | rs63750364 |
LitVar | rs63750364 |
Map | rs63750364 |
PheGenI | rs63750364 |
Biobank | rs63750364 |
1000 genomes | rs63750364 |
hgdp | rs63750364 |
ensembl | rs63750364 |
geneview | rs63750364 |
scholar | rs63750364 |
rs63750364 | |
pharmgkb | rs63750364 |
gwascentral | rs63750364 |
openSNP | rs63750364 |
23andMe | rs63750364 |
SNPshot | rs63750364 |
SNPdbe | rs63750364 |
MSV3d | rs63750364 |
GWAS Ctlg | rs63750364 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750364(A;A) rs63750364(T;T) |
Alt | rs63750364(A;A) rs63750364(T;T) |
Reference | Rs63750364(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47639594_47639595insT; NC_000002.11:g.47639594dup; NC_000002.11:g.47639594dupA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000491983.1, RCV000491369.1, RCV000076682.2, |