rs63751477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs63751477(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47478306 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751477 |
dbSNP (classic) | rs63751477 |
ClinGen | rs63751477 |
ebi | rs63751477 |
HLI | rs63751477 |
Exac | rs63751477 |
Gnomad | rs63751477 |
Varsome | rs63751477 |
LitVar | rs63751477 |
Map | rs63751477 |
PheGenI | rs63751477 |
Biobank | rs63751477 |
1000 genomes | rs63751477 |
hgdp | rs63751477 |
ensembl | rs63751477 |
geneview | rs63751477 |
scholar | rs63751477 |
rs63751477 | |
pharmgkb | rs63751477 |
gwascentral | rs63751477 |
openSNP | rs63751477 |
23andMe | rs63751477 |
SNPshot | rs63751477 |
SNPdbe | rs63751477 |
MSV3d | rs63751477 |
GWAS Ctlg | rs63751477 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751477(A;A) rs63751477(T;T) |
Alt | rs63751477(A;A) rs63751477(T;T) |
Reference | Rs63751477(G;G) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47705445G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000076444.2, RCV000218283.1, |