rs587781408
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome |
(T;T) | 0 | common in clinvar |
Make rs587781408(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47799390 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs587781408 |
dbSNP (classic) | rs587781408 |
ClinGen | rs587781408 |
ebi | rs587781408 |
HLI | rs587781408 |
Exac | rs587781408 |
Gnomad | rs587781408 |
Varsome | rs587781408 |
LitVar | rs587781408 |
Map | rs587781408 |
PheGenI | rs587781408 |
Biobank | rs587781408 |
1000 genomes | rs587781408 |
hgdp | rs587781408 |
ensembl | rs587781408 |
geneview | rs587781408 |
scholar | rs587781408 |
rs587781408 | |
pharmgkb | rs587781408 |
gwascentral | rs587781408 |
openSNP | rs587781408 |
23andMe | rs587781408 |
SNPshot | rs587781408 |
SNPdbe | rs587781408 |
MSV3d | rs587781408 |
GWAS Ctlg | rs587781408 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587781408(A;A) rs587781408(C;C) |
Alt | rs587781408(A;A) rs587781408(C;C) |
Reference | Rs587781408(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48026529T>A; NC_000002.11:g.48026529T>C |
CLNSRC | |
CLNACC | RCV000129263.2, RCV000219475.1, RCV000439040.1, RCV000470875.1, |