rs780001199
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 5 | Hereditary leiomyomatosis and renal cell cancer |
(CT;CT) | 0 | common in clinvar |
Make rs780001199(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 241508669 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs780001199 |
dbSNP (classic) | rs780001199 |
ClinGen | rs780001199 |
ebi | rs780001199 |
HLI | rs780001199 |
Exac | rs780001199 |
Gnomad | rs780001199 |
Varsome | rs780001199 |
LitVar | rs780001199 |
Map | rs780001199 |
PheGenI | rs780001199 |
Biobank | rs780001199 |
1000 genomes | rs780001199 |
hgdp | rs780001199 |
ensembl | rs780001199 |
geneview | rs780001199 |
scholar | rs780001199 |
rs780001199 | |
pharmgkb | rs780001199 |
gwascentral | rs780001199 |
openSNP | rs780001199 |
23andMe | rs780001199 |
SNPshot | rs780001199 |
SNPdbe | rs780001199 |
MSV3d | rs780001199 |
GWAS Ctlg | rs780001199 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs780001199(-;-) |
Alt | rs780001199(-;-) |
Reference | Rs780001199(CT;CT) |
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.241671969_241671970delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017621.29, |