rs786203385
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs786203385(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 65077912 |
Gene | MAX |
is a | snp |
is | mentioned by |
dbSNP | rs786203385 |
dbSNP (classic) | rs786203385 |
ClinGen | rs786203385 |
ebi | rs786203385 |
HLI | rs786203385 |
Exac | rs786203385 |
Gnomad | rs786203385 |
Varsome | rs786203385 |
LitVar | rs786203385 |
Map | rs786203385 |
PheGenI | rs786203385 |
Biobank | rs786203385 |
1000 genomes | rs786203385 |
hgdp | rs786203385 |
ensembl | rs786203385 |
geneview | rs786203385 |
scholar | rs786203385 |
rs786203385 | |
pharmgkb | rs786203385 |
gwascentral | rs786203385 |
openSNP | rs786203385 |
23andMe | rs786203385 |
SNPshot | rs786203385 |
SNPdbe | rs786203385 |
MSV3d | rs786203385 |
GWAS Ctlg | rs786203385 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs786203385(A;A) |
Alt | rs786203385(A;A) |
Reference | Rs786203385(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MAX |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000014.8:g.65544630C>T |
CLNSRC | |
CLNACC | RCV000166666.2, |