rs398123159
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123159(A;A) |
Make rs398123159(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 241504130 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs398123159 |
dbSNP (classic) | rs398123159 |
ClinGen | rs398123159 |
ebi | rs398123159 |
HLI | rs398123159 |
Exac | rs398123159 |
Gnomad | rs398123159 |
Varsome | rs398123159 |
LitVar | rs398123159 |
Map | rs398123159 |
PheGenI | rs398123159 |
Biobank | rs398123159 |
1000 genomes | rs398123159 |
hgdp | rs398123159 |
ensembl | rs398123159 |
geneview | rs398123159 |
scholar | rs398123159 |
rs398123159 | |
pharmgkb | rs398123159 |
gwascentral | rs398123159 |
openSNP | rs398123159 |
23andMe | rs398123159 |
SNPshot | rs398123159 |
SNPdbe | rs398123159 |
MSV3d | rs398123159 |
GWAS Ctlg | rs398123159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123159(A;A) |
Alt | rs398123159(A;A) |
Reference | Rs398123159(T;T) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome Fumarase deficiency not specified Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary cancer-predisposing syndrome Fumarase deficiency not specified Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241667430A>T |
CLNSRC | HGMD |
CLNACC | RCV000078140.7, RCV000220396.2, RCV000228017.2, RCV000259049.1, RCV000445596.1, |