rs63749838
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63749838(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 36993620 |
Gene | EPM2AIP1, MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63749838 |
dbSNP (classic) | rs63749838 |
ClinGen | rs63749838 |
ebi | rs63749838 |
HLI | rs63749838 |
Exac | rs63749838 |
Gnomad | rs63749838 |
Varsome | rs63749838 |
LitVar | rs63749838 |
Map | rs63749838 |
PheGenI | rs63749838 |
Biobank | rs63749838 |
1000 genomes | rs63749838 |
hgdp | rs63749838 |
ensembl | rs63749838 |
geneview | rs63749838 |
scholar | rs63749838 |
rs63749838 | |
pharmgkb | rs63749838 |
gwascentral | rs63749838 |
openSNP | rs63749838 |
23andMe | rs63749838 |
SNPshot | rs63749838 |
SNPdbe | rs63749838 |
MSV3d | rs63749838 |
GWAS Ctlg | rs63749838 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749838(G;G) rs63749838(T;T) |
Alt | rs63749838(G;G) rs63749838(T;T) |
Reference | Rs63749838(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Lynch syndrome |
Variation | info |
Gene | EPM2AIP1 MLH1 |
CLNDBN | not specified Lynch syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37035111A>G; NC_000003.11:g.37035111A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000481596.1, RCV000075834.2, |