rs794727836
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TTTTGTC) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(TTTTGTC;TTTTGTC) | 0 | common in clinvar |
Make rs794727836(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241504232 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs794727836 |
dbSNP (classic) | rs794727836 |
ClinGen | rs794727836 |
ebi | rs794727836 |
HLI | rs794727836 |
Exac | rs794727836 |
Gnomad | rs794727836 |
Varsome | rs794727836 |
LitVar | rs794727836 |
Map | rs794727836 |
PheGenI | rs794727836 |
Biobank | rs794727836 |
1000 genomes | rs794727836 |
hgdp | rs794727836 |
ensembl | rs794727836 |
geneview | rs794727836 |
scholar | rs794727836 |
rs794727836 | |
pharmgkb | rs794727836 |
gwascentral | rs794727836 |
openSNP | rs794727836 |
23andMe | rs794727836 |
SNPshot | rs794727836 |
SNPdbe | rs794727836 |
MSV3d | rs794727836 |
GWAS Ctlg | rs794727836 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs794727836(-;-) |
Alt | rs794727836(-;-) |
Reference | Rs794727836(TTTTGTC;TTTTGTC) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.241667532_241667538delGACAAAA |
CLNSRC | |
CLNACC | RCV000179717.1, RCV000199793.2, RCV000477647.1, |