rs797044974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
Make rs797044974(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241502469 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs797044974 |
dbSNP (classic) | rs797044974 |
ClinGen | rs797044974 |
ebi | rs797044974 |
HLI | rs797044974 |
Exac | rs797044974 |
Gnomad | rs797044974 |
Varsome | rs797044974 |
LitVar | rs797044974 |
Map | rs797044974 |
PheGenI | rs797044974 |
Biobank | rs797044974 |
1000 genomes | rs797044974 |
hgdp | rs797044974 |
ensembl | rs797044974 |
geneview | rs797044974 |
scholar | rs797044974 |
rs797044974 | |
pharmgkb | rs797044974 |
gwascentral | rs797044974 |
openSNP | rs797044974 |
23andMe | rs797044974 |
SNPshot | rs797044974 |
SNPdbe | rs797044974 |
MSV3d | rs797044974 |
GWAS Ctlg | rs797044974 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs797044974(T;T) |
Alt | rs797044974(T;T) |
Reference | Rs797044974(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.241665769C>A |
CLNSRC | |
CLNACC | RCV000192733.1, |