rs63750437
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs63750437(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37000977 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750437 |
dbSNP (classic) | rs63750437 |
ClinGen | rs63750437 |
ebi | rs63750437 |
HLI | rs63750437 |
Exac | rs63750437 |
Gnomad | rs63750437 |
Varsome | rs63750437 |
LitVar | rs63750437 |
Map | rs63750437 |
PheGenI | rs63750437 |
Biobank | rs63750437 |
1000 genomes | rs63750437 |
hgdp | rs63750437 |
ensembl | rs63750437 |
geneview | rs63750437 |
scholar | rs63750437 |
rs63750437 | |
pharmgkb | rs63750437 |
gwascentral | rs63750437 |
openSNP | rs63750437 |
23andMe | rs63750437 |
SNPshot | rs63750437 |
SNPdbe | rs63750437 |
MSV3d | rs63750437 |
GWAS Ctlg | rs63750437 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750437(A;A) rs63750437(C;C) |
Alt | rs63750437(A;A) rs63750437(C;C) |
Reference | Rs63750437(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37042468G>A; NC_000003.11:g.37042468G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075598.2, RCV000480847.1, |