rs398123163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(A;A) | 0 | common in clinvar |
Make rs398123163(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241500534 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs398123163 |
dbSNP (classic) | rs398123163 |
ClinGen | rs398123163 |
ebi | rs398123163 |
HLI | rs398123163 |
Exac | rs398123163 |
Gnomad | rs398123163 |
Varsome | rs398123163 |
LitVar | rs398123163 |
Map | rs398123163 |
PheGenI | rs398123163 |
Biobank | rs398123163 |
1000 genomes | rs398123163 |
hgdp | rs398123163 |
ensembl | rs398123163 |
geneview | rs398123163 |
scholar | rs398123163 |
rs398123163 | |
pharmgkb | rs398123163 |
gwascentral | rs398123163 |
openSNP | rs398123163 |
23andMe | rs398123163 |
SNPshot | rs398123163 |
SNPdbe | rs398123163 |
MSV3d | rs398123163 |
GWAS Ctlg | rs398123163 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs398123163(-;-) |
Alt | rs398123163(-;-) |
Reference | Rs398123163(A;A) |
Significance | Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.241663834delT |
CLNSRC | HGMD |
CLNACC | RCV000078145.6, RCV000445588.1, RCV000461548.1, RCV000493624.1, |