rs794727698
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5 | Associated with leiomyomatosis and possibly renal cell cancer |
(G;G) | 0 | common in clinvar |
Make rs794727698(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241508786 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs794727698 |
dbSNP (classic) | rs794727698 |
ClinGen | rs794727698 |
ebi | rs794727698 |
HLI | rs794727698 |
Exac | rs794727698 |
Gnomad | rs794727698 |
Varsome | rs794727698 |
LitVar | rs794727698 |
Map | rs794727698 |
PheGenI | rs794727698 |
Biobank | rs794727698 |
1000 genomes | rs794727698 |
hgdp | rs794727698 |
ensembl | rs794727698 |
geneview | rs794727698 |
scholar | rs794727698 |
rs794727698 | |
pharmgkb | rs794727698 |
gwascentral | rs794727698 |
openSNP | rs794727698 |
23andMe | rs794727698 |
SNPshot | rs794727698 |
SNPdbe | rs794727698 |
MSV3d | rs794727698 |
GWAS Ctlg | rs794727698 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs794727698(C;C) |
Alt | rs794727698(C;C) |
Reference | Rs794727698(G;G) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241672086C>G |
CLNSRC | |
CLNACC | RCV000178715.1, |