rs1060502000
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCG;GCCG) | 0 | common in clinvar |
Make rs1060502000(-;-) |
Make rs1060502000(-;GCCG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 47403278 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502000 |
dbSNP (classic) | rs1060502000 |
ClinGen | rs1060502000 |
ebi | rs1060502000 |
HLI | rs1060502000 |
Exac | rs1060502000 |
Gnomad | rs1060502000 |
Varsome | rs1060502000 |
LitVar | rs1060502000 |
Map | rs1060502000 |
PheGenI | rs1060502000 |
Biobank | rs1060502000 |
1000 genomes | rs1060502000 |
hgdp | rs1060502000 |
ensembl | rs1060502000 |
geneview | rs1060502000 |
scholar | rs1060502000 |
rs1060502000 | |
pharmgkb | rs1060502000 |
gwascentral | rs1060502000 |
openSNP | rs1060502000 |
23andMe | rs1060502000 |
SNPshot | rs1060502000 |
SNPdbe | rs1060502000 |
MSV3d | rs1060502000 |
GWAS Ctlg | rs1060502000 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502000(-;-) |
Alt | rs1060502000(-;-) |
Reference | Rs1060502000(GCCG;GCCG) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47630417_47630420delGCCG |
CLNSRC | |
CLNACC | RCV000463781.1, |