rs756469140
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTCA) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(TTCA;TTCA) | 0 | common in clinvar |
Make rs756469140(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241504064 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs756469140 |
dbSNP (classic) | rs756469140 |
ClinGen | rs756469140 |
ebi | rs756469140 |
HLI | rs756469140 |
Exac | rs756469140 |
Gnomad | rs756469140 |
Varsome | rs756469140 |
LitVar | rs756469140 |
Map | rs756469140 |
PheGenI | rs756469140 |
Biobank | rs756469140 |
1000 genomes | rs756469140 |
hgdp | rs756469140 |
ensembl | rs756469140 |
geneview | rs756469140 |
scholar | rs756469140 |
rs756469140 | |
pharmgkb | rs756469140 |
gwascentral | rs756469140 |
openSNP | rs756469140 |
23andMe | rs756469140 |
SNPshot | rs756469140 |
SNPdbe | rs756469140 |
MSV3d | rs756469140 |
GWAS Ctlg | rs756469140 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs756469140(-;-) |
Alt | rs756469140(-;-) |
Reference | Rs756469140(TTCA;TTCA) |
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 | 0 |
HGVS | NC_000001.10:g.241667364_241667367delTTCA |
CLNSRC | |
CLNACC | RCV000196197.2, RCV000445586.1, RCV000470614.1, RCV000493004.1, |