rs1060502918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060502918(-;-) |
Make rs1060502918(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 47799993 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502918 |
dbSNP (classic) | rs1060502918 |
ClinGen | rs1060502918 |
ebi | rs1060502918 |
HLI | rs1060502918 |
Exac | rs1060502918 |
Gnomad | rs1060502918 |
Varsome | rs1060502918 |
LitVar | rs1060502918 |
Map | rs1060502918 |
PheGenI | rs1060502918 |
Biobank | rs1060502918 |
1000 genomes | rs1060502918 |
hgdp | rs1060502918 |
ensembl | rs1060502918 |
geneview | rs1060502918 |
scholar | rs1060502918 |
rs1060502918 | |
pharmgkb | rs1060502918 |
gwascentral | rs1060502918 |
openSNP | rs1060502918 |
23andMe | rs1060502918 |
SNPshot | rs1060502918 |
SNPdbe | rs1060502918 |
MSV3d | rs1060502918 |
GWAS Ctlg | rs1060502918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502918(-;-) |
Alt | rs1060502918(-;-) |
Reference | Rs1060502918(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48027132delG |
CLNSRC | |
CLNACC | RCV000462642.1, RCV000490988.1, |