rs28756990
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28756990(G;T) |
Make rs28756990(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 75047435 |
Gene | MLH3 |
is a | snp |
is | mentioned by |
dbSNP | rs28756990 |
dbSNP (classic) | rs28756990 |
ClinGen | rs28756990 |
ebi | rs28756990 |
HLI | rs28756990 |
Exac | rs28756990 |
Gnomad | rs28756990 |
Varsome | rs28756990 |
LitVar | rs28756990 |
Map | rs28756990 |
PheGenI | rs28756990 |
Biobank | rs28756990 |
1000 genomes | rs28756990 |
hgdp | rs28756990 |
ensembl | rs28756990 |
geneview | rs28756990 |
scholar | rs28756990 |
rs28756990 | |
pharmgkb | rs28756990 |
gwascentral | rs28756990 |
openSNP | rs28756990 |
23andMe | rs28756990 |
SNPshot | rs28756990 |
SNPdbe | rs28756990 |
MSV3d | rs28756990 |
GWAS Ctlg | rs28756990 |
GMAF | 0.01653 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28756990(A;A) rs28756990(T;T) |
Alt | rs28756990(A;A) rs28756990(T;T) |
Reference | Rs28756990(G;G) |
Significance | Pathogenic |
Disease | Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7 Lynch syndrome MLH3-Related Lynch Syndrome |
Variation | info |
Gene | MLH3 |
CLNDBN | Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7 Lynch syndrome MLH3-Related Lynch Syndrome |
Reversed | 1 |
HGVS | NC_000014.8:g.75514138C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005900.2, RCV000005901.2, RCV000287505.1, RCV000476183.1, |