rs63750453
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs63750453(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 37001051 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750453 |
dbSNP (classic) | rs63750453 |
ClinGen | rs63750453 |
ebi | rs63750453 |
HLI | rs63750453 |
Exac | rs63750453 |
Gnomad | rs63750453 |
Varsome | rs63750453 |
LitVar | rs63750453 |
Map | rs63750453 |
PheGenI | rs63750453 |
Biobank | rs63750453 |
1000 genomes | rs63750453 |
hgdp | rs63750453 |
ensembl | rs63750453 |
geneview | rs63750453 |
scholar | rs63750453 |
rs63750453 | |
pharmgkb | rs63750453 |
gwascentral | rs63750453 |
openSNP | rs63750453 |
23andMe | rs63750453 |
SNPshot | rs63750453 |
SNPdbe | rs63750453 |
MSV3d | rs63750453 |
GWAS Ctlg | rs63750453 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750453(A;A) |
Alt | rs63750453(A;A) |
Reference | Rs63750453(G;G) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37042542G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075627.2, RCV000216042.1, RCV000493419.1, |