rs281864936
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | Lynch syndrome, pathogenic mutation |
(-;GAGA) | 6 | Lynch syndrome, pathogenic mutation |
(AGAG;AGAG) | 0 | common in clinvar |
(GA;GA) | 0 | common/normal |
(GAGA;GAGA) | 0 | common in clinvar |
Make rs281864936(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37028787 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs281864936 |
dbSNP (classic) | rs281864936 |
ClinGen | rs281864936 |
ebi | rs281864936 |
HLI | rs281864936 |
Exac | rs281864936 |
Gnomad | rs281864936 |
Varsome | rs281864936 |
LitVar | rs281864936 |
Map | rs281864936 |
PheGenI | rs281864936 |
Biobank | rs281864936 |
1000 genomes | rs281864936 |
hgdp | rs281864936 |
ensembl | rs281864936 |
geneview | rs281864936 |
scholar | rs281864936 |
rs281864936 | |
pharmgkb | rs281864936 |
gwascentral | rs281864936 |
openSNP | rs281864936 |
23andMe | rs281864936 |
SNPshot | rs281864936 |
SNPdbe | rs281864936 |
MSV3d | rs281864936 |
GWAS Ctlg | rs281864936 |
Max Magnitude | 6 |
aka c.1119_1122delGAGA and also c.1119_1120delGA; both are considered pathogenic in ClinVar for Lynch syndrome
ClinVar | |
---|---|
Risk | rs281864936(-;-) |
Alt | rs281864936(-;-) |
Reference | Rs281864936(AGAG;AGAG) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37070278_37070281delGAGA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075204.2, |