rs587781682
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
Make rs587781682(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 241508644 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs587781682 |
dbSNP (classic) | rs587781682 |
ClinGen | rs587781682 |
ebi | rs587781682 |
HLI | rs587781682 |
Exac | rs587781682 |
Gnomad | rs587781682 |
Varsome | rs587781682 |
LitVar | rs587781682 |
Map | rs587781682 |
PheGenI | rs587781682 |
Biobank | rs587781682 |
1000 genomes | rs587781682 |
hgdp | rs587781682 |
ensembl | rs587781682 |
geneview | rs587781682 |
scholar | rs587781682 |
rs587781682 | |
pharmgkb | rs587781682 |
gwascentral | rs587781682 |
openSNP | rs587781682 |
23andMe | rs587781682 |
SNPshot | rs587781682 |
SNPdbe | rs587781682 |
MSV3d | rs587781682 |
GWAS Ctlg | rs587781682 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs587781682(T;T) |
Alt | rs587781682(T;T) |
Reference | Rs587781682(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241671944G>A |
CLNSRC | HGMD |
CLNACC | RCV000129845.4, RCV000153237.4, RCV000178716.1, |