rs750273092
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(T;T) | 0 | common in clinvar |
Make rs750273092(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241508787 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs750273092 |
dbSNP (classic) | rs750273092 |
ClinGen | rs750273092 |
ebi | rs750273092 |
HLI | rs750273092 |
Exac | rs750273092 |
Gnomad | rs750273092 |
Varsome | rs750273092 |
LitVar | rs750273092 |
Map | rs750273092 |
PheGenI | rs750273092 |
Biobank | rs750273092 |
1000 genomes | rs750273092 |
hgdp | rs750273092 |
ensembl | rs750273092 |
geneview | rs750273092 |
scholar | rs750273092 |
rs750273092 | |
pharmgkb | rs750273092 |
gwascentral | rs750273092 |
openSNP | rs750273092 |
23andMe | rs750273092 |
SNPshot | rs750273092 |
SNPdbe | rs750273092 |
MSV3d | rs750273092 |
GWAS Ctlg | rs750273092 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs750273092(A;A) |
Alt | rs750273092(A;A) |
Reference | Rs750273092(T;T) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer |
Reversed | 0 |
HGVS | NC_000001.10:g.241672087T>A |
CLNSRC | |
CLNACC | RCV000445615.1, |