rs863224000
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(T;T) | 0 | common in clinvar |
Make rs863224000(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241504216 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs863224000 |
dbSNP (classic) | rs863224000 |
ClinGen | rs863224000 |
ebi | rs863224000 |
HLI | rs863224000 |
Exac | rs863224000 |
Gnomad | rs863224000 |
Varsome | rs863224000 |
LitVar | rs863224000 |
Map | rs863224000 |
PheGenI | rs863224000 |
Biobank | rs863224000 |
1000 genomes | rs863224000 |
hgdp | rs863224000 |
ensembl | rs863224000 |
geneview | rs863224000 |
scholar | rs863224000 |
rs863224000 | |
pharmgkb | rs863224000 |
gwascentral | rs863224000 |
openSNP | rs863224000 |
23andMe | rs863224000 |
SNPshot | rs863224000 |
SNPdbe | rs863224000 |
MSV3d | rs863224000 |
GWAS Ctlg | rs863224000 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs863224000(C;C) |
Alt | rs863224000(C;C) |
Reference | Rs863224000(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.241667516A>G |
CLNSRC | |
CLNACC | RCV000197788.2, RCV000493445.1, |