rs587776529
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;22) | 6 | Lynch syndrome, pathogenic mutation |
Make rs587776529(-;AAGATCTTCTTCTGGTTCGTCA) |
Make rs587776529(AAGATCTTCTTCTGGTTCGTCA;AAGATCTTCTTCTGGTTCGTCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47408479 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776529 |
dbSNP (classic) | rs587776529 |
ClinGen | rs587776529 |
ebi | rs587776529 |
HLI | rs587776529 |
Exac | rs587776529 |
Gnomad | rs587776529 |
Varsome | rs587776529 |
LitVar | rs587776529 |
Map | rs587776529 |
PheGenI | rs587776529 |
Biobank | rs587776529 |
1000 genomes | rs587776529 |
hgdp | rs587776529 |
ensembl | rs587776529 |
geneview | rs587776529 |
scholar | rs587776529 |
rs587776529 | |
pharmgkb | rs587776529 |
gwascentral | rs587776529 |
openSNP | rs587776529 |
23andMe | rs587776529 |
SNPshot | rs587776529 |
SNPdbe | rs587776529 |
MSV3d | rs587776529 |
GWAS Ctlg | rs587776529 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587776529(AAAGATCTTCTTCTGGTTCGTC;AAAGATCTTCTTCTGGTTCGTC) rs587776529(AAGATCTTCTTCTGGTTCGTCA;AAGATCTTCTTCTGGTTCGTCA) |
Alt | rs587776529(AAAGATCTTCTTCTGGTTCGTC;AAAGATCTTCTTCTGGTTCGTC) rs587776529(AAGATCTTCTTCTGGTTCGTCA;AAGATCTTCTTCTGGTTCGTCA) |
Reference | Rs587776529(-;-) |
Significance | Pathogenic |
Disease | Muir-Torré syndrome Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Muir-Torré syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47635597_47635618dup22 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001831.2, RCV000076538.2, |