rs797044973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(C;G) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(G;G) | 0 | common in clinvar |
Make rs797044973(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241504246 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs797044973 |
dbSNP (classic) | rs797044973 |
ClinGen | rs797044973 |
ebi | rs797044973 |
HLI | rs797044973 |
Exac | rs797044973 |
Gnomad | rs797044973 |
Varsome | rs797044973 |
LitVar | rs797044973 |
Map | rs797044973 |
PheGenI | rs797044973 |
Biobank | rs797044973 |
1000 genomes | rs797044973 |
hgdp | rs797044973 |
ensembl | rs797044973 |
geneview | rs797044973 |
scholar | rs797044973 |
rs797044973 | |
pharmgkb | rs797044973 |
gwascentral | rs797044973 |
openSNP | rs797044973 |
23andMe | rs797044973 |
SNPshot | rs797044973 |
SNPdbe | rs797044973 |
MSV3d | rs797044973 |
GWAS Ctlg | rs797044973 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs797044973(A;A) |
Alt | rs797044973(A;A) |
Reference | Rs797044973(G;G) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.241667546C>T |
CLNSRC | |
CLNACC | RCV000193655.1, RCV000493531.1, |