rs63750120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs63750120(-;-) |
Make rs63750120(-;AAG) |
Make rs63750120(AAG;AAG) |
Reference | GRCh37.p5 37.3/137 |
Chromosome | 3 |
Position | 37089124 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750120 |
dbSNP (classic) | rs63750120 |
ClinGen | rs63750120 |
ebi | rs63750120 |
HLI | rs63750120 |
Exac | rs63750120 |
Gnomad | rs63750120 |
Varsome | rs63750120 |
LitVar | rs63750120 |
Map | rs63750120 |
PheGenI | rs63750120 |
Biobank | rs63750120 |
1000 genomes | rs63750120 |
hgdp | rs63750120 |
ensembl | rs63750120 |
geneview | rs63750120 |
scholar | rs63750120 |
rs63750120 | |
pharmgkb | rs63750120 |
gwascentral | rs63750120 |
openSNP | rs63750120 |
23andMe | rs63750120 |
SNPshot | rs63750120 |
SNPdbe | rs63750120 |
MSV3d | rs63750120 |
GWAS Ctlg | rs63750120 |
Status | Deleted |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750120(G;G) rs63750120(GAAG;GAAG) |
Alt | rs63750120(G;G) rs63750120(GAAG;GAAG) |
Reference | Rs63750120(GA;GA) |
Significance | Pathogenic |
Disease | Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37089124delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000038910.1, SCV000038910.1, |