rs281864940
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CA) | 6 | Lynch syndrome, pathogenic mutation |
(A;A) | 0 | common in clinvar |
Make rs281864940(CA;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37050537 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs281864940 |
dbSNP (classic) | rs281864940 |
ClinGen | rs281864940 |
ebi | rs281864940 |
HLI | rs281864940 |
Exac | rs281864940 |
Gnomad | rs281864940 |
Varsome | rs281864940 |
LitVar | rs281864940 |
Map | rs281864940 |
PheGenI | rs281864940 |
Biobank | rs281864940 |
1000 genomes | rs281864940 |
hgdp | rs281864940 |
ensembl | rs281864940 |
geneview | rs281864940 |
scholar | rs281864940 |
rs281864940 | |
pharmgkb | rs281864940 |
gwascentral | rs281864940 |
openSNP | rs281864940 |
23andMe | rs281864940 |
SNPshot | rs281864940 |
SNPdbe | rs281864940 |
MSV3d | rs281864940 |
GWAS Ctlg | rs281864940 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs281864940(ATGTGTTCCACA;ATGTGTTCCACA) rs281864940(CA;CA) |
Alt | rs281864940(ATGTGTTCCACA;ATGTGTTCCACA) rs281864940(CA;CA) |
Reference | Rs281864940(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome Lynch syndrome I |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000003.11:g.37092027_37092028dupCA; NC_000003.11:g.37092028_37092029insATGTGTTCCACA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075559.2, RCV000144602.1, RCV000075560.2, |