rs863223980
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863223980(C;T) |
Make rs863223980(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241517310 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs863223980 |
dbSNP (classic) | rs863223980 |
ClinGen | rs863223980 |
ebi | rs863223980 |
HLI | rs863223980 |
Exac | rs863223980 |
Gnomad | rs863223980 |
Varsome | rs863223980 |
LitVar | rs863223980 |
Map | rs863223980 |
PheGenI | rs863223980 |
Biobank | rs863223980 |
1000 genomes | rs863223980 |
hgdp | rs863223980 |
ensembl | rs863223980 |
geneview | rs863223980 |
scholar | rs863223980 |
rs863223980 | |
pharmgkb | rs863223980 |
gwascentral | rs863223980 |
openSNP | rs863223980 |
23andMe | rs863223980 |
SNPshot | rs863223980 |
SNPdbe | rs863223980 |
MSV3d | rs863223980 |
GWAS Ctlg | rs863223980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223980(T;T) |
Alt | rs863223980(T;T) |
Reference | Rs863223980(C;C) |
Significance | Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.241680610G>A |
CLNSRC | |
CLNACC | RCV000200269.2, RCV000445602.1, RCV000494159.1, |