rs587776530
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ATGA) | 6 | Lynch syndrome, pathogenic mutation |
(AATG;AATG) | 0 | common in clinvar |
(ATGA;ATGA) | 0 | common in clinvar |
Make rs587776530(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47463101 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776530 |
dbSNP (classic) | rs587776530 |
ClinGen | rs587776530 |
ebi | rs587776530 |
HLI | rs587776530 |
Exac | rs587776530 |
Gnomad | rs587776530 |
Varsome | rs587776530 |
LitVar | rs587776530 |
Map | rs587776530 |
PheGenI | rs587776530 |
Biobank | rs587776530 |
1000 genomes | rs587776530 |
hgdp | rs587776530 |
ensembl | rs587776530 |
geneview | rs587776530 |
scholar | rs587776530 |
rs587776530 | |
pharmgkb | rs587776530 |
gwascentral | rs587776530 |
openSNP | rs587776530 |
23andMe | rs587776530 |
SNPshot | rs587776530 |
SNPdbe | rs587776530 |
MSV3d | rs587776530 |
GWAS Ctlg | rs587776530 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587776530(-;-) Rs587776530(AATG;AATG) |
Alt | rs587776530(-;-) Rs587776530(AATG;AATG) |
Reference | Rs587776530(ATGA;ATGA) |
Significance | Pathogenic |
Disease | Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47690240_47690243delATGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001842.2, RCV000076166.2, RCV000166117.2, RCV000236889.1, |