rs863224007
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(G;G) | 0 | common in clinvar |
Make rs863224007(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241502490 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs863224007 |
dbSNP (classic) | rs863224007 |
ClinGen | rs863224007 |
ebi | rs863224007 |
HLI | rs863224007 |
Exac | rs863224007 |
Gnomad | rs863224007 |
Varsome | rs863224007 |
LitVar | rs863224007 |
Map | rs863224007 |
PheGenI | rs863224007 |
Biobank | rs863224007 |
1000 genomes | rs863224007 |
hgdp | rs863224007 |
ensembl | rs863224007 |
geneview | rs863224007 |
scholar | rs863224007 |
rs863224007 | |
pharmgkb | rs863224007 |
gwascentral | rs863224007 |
openSNP | rs863224007 |
23andMe | rs863224007 |
SNPshot | rs863224007 |
SNPdbe | rs863224007 |
MSV3d | rs863224007 |
GWAS Ctlg | rs863224007 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs863224007(A;A) |
Alt | rs863224007(A;A) |
Reference | Rs863224007(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.241665790C>T |
CLNSRC | |
CLNACC | RCV000200752.3, RCV000445595.1, RCV000465210.1, |