rs1060500692
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGGAGAT;GGGAGAT) | 0 | common in clinvar |
Make rs1060500692(-;-) |
Make rs1060500692(-;GAGATGG) |
Make rs1060500692(GAGATGG;GAGATGG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 37025670 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500692 |
dbSNP (classic) | rs1060500692 |
ClinGen | rs1060500692 |
ebi | rs1060500692 |
HLI | rs1060500692 |
Exac | rs1060500692 |
Gnomad | rs1060500692 |
Varsome | rs1060500692 |
LitVar | rs1060500692 |
Map | rs1060500692 |
PheGenI | rs1060500692 |
Biobank | rs1060500692 |
1000 genomes | rs1060500692 |
hgdp | rs1060500692 |
ensembl | rs1060500692 |
geneview | rs1060500692 |
scholar | rs1060500692 |
rs1060500692 | |
pharmgkb | rs1060500692 |
gwascentral | rs1060500692 |
openSNP | rs1060500692 |
23andMe | rs1060500692 |
SNPshot | rs1060500692 |
SNPdbe | rs1060500692 |
MSV3d | rs1060500692 |
GWAS Ctlg | rs1060500692 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500692(-;-) |
Alt | rs1060500692(-;-) |
Reference | Rs1060500692(GGGAGAT;GGGAGAT) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37067161_37067167delGAGATGG |
CLNSRC | |
CLNACC | RCV000473572.1, |