rs1060502039
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060502039(-;-) |
Make rs1060502039(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 47475061 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502039 |
dbSNP (classic) | rs1060502039 |
ClinGen | rs1060502039 |
ebi | rs1060502039 |
HLI | rs1060502039 |
Exac | rs1060502039 |
Gnomad | rs1060502039 |
Varsome | rs1060502039 |
LitVar | rs1060502039 |
Map | rs1060502039 |
PheGenI | rs1060502039 |
Biobank | rs1060502039 |
1000 genomes | rs1060502039 |
hgdp | rs1060502039 |
ensembl | rs1060502039 |
geneview | rs1060502039 |
scholar | rs1060502039 |
rs1060502039 | |
pharmgkb | rs1060502039 |
gwascentral | rs1060502039 |
openSNP | rs1060502039 |
23andMe | rs1060502039 |
SNPshot | rs1060502039 |
SNPdbe | rs1060502039 |
MSV3d | rs1060502039 |
GWAS Ctlg | rs1060502039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502039(-;-) |
Alt | rs1060502039(-;-) |
Reference | Rs1060502039(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47702200delT |
CLNSRC | |
CLNACC | RCV000473024.1, |