rs63749995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Lynch syndrome, pathogenic mutation |
(C;C) | 0 | common in clinvar |
Make rs63749995(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37048998 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63749995 |
dbSNP (classic) | rs63749995 |
ClinGen | rs63749995 |
ebi | rs63749995 |
HLI | rs63749995 |
Exac | rs63749995 |
Gnomad | rs63749995 |
Varsome | rs63749995 |
LitVar | rs63749995 |
Map | rs63749995 |
PheGenI | rs63749995 |
Biobank | rs63749995 |
1000 genomes | rs63749995 |
hgdp | rs63749995 |
ensembl | rs63749995 |
geneview | rs63749995 |
scholar | rs63749995 |
rs63749995 | |
pharmgkb | rs63749995 |
gwascentral | rs63749995 |
openSNP | rs63749995 |
23andMe | rs63749995 |
SNPshot | rs63749995 |
SNPdbe | rs63749995 |
MSV3d | rs63749995 |
GWAS Ctlg | rs63749995 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749995(A;A) rs63749995(G;G) |
Alt | rs63749995(A;A) rs63749995(G;G) |
Reference | Rs63749995(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37090489C>A; NC_000003.11:g.37090489C>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075523.2, RCV000215270.1, |