rs63750952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs63750952(A;G) |
Make rs63750952(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 36996693 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750952 |
dbSNP (classic) | rs63750952 |
ClinGen | rs63750952 |
ebi | rs63750952 |
HLI | rs63750952 |
Exac | rs63750952 |
Gnomad | rs63750952 |
Varsome | rs63750952 |
LitVar | rs63750952 |
Map | rs63750952 |
PheGenI | rs63750952 |
Biobank | rs63750952 |
1000 genomes | rs63750952 |
hgdp | rs63750952 |
ensembl | rs63750952 |
geneview | rs63750952 |
scholar | rs63750952 |
rs63750952 | |
pharmgkb | rs63750952 |
gwascentral | rs63750952 |
openSNP | rs63750952 |
23andMe | rs63750952 |
SNPshot | rs63750952 |
SNPdbe | rs63750952 |
MSV3d | rs63750952 |
GWAS Ctlg | rs63750952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750952(G;G) |
Alt | rs63750952(G;G) |
Reference | Rs63750952(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome II Lynch syndrome I |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome II Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000003.11:g.37038184A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075426.3, RCV000160536.3, RCV000217492.2, RCV000410882.1, RCV000490571.1, |