rs1060499635
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGCAA;CAGCAA) | 0 | common in clinvar |
Make rs1060499635(-;-) |
Make rs1060499635(-;CAGCAA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241508758 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs1060499635 |
dbSNP (classic) | rs1060499635 |
ClinGen | rs1060499635 |
ebi | rs1060499635 |
HLI | rs1060499635 |
Exac | rs1060499635 |
Gnomad | rs1060499635 |
Varsome | rs1060499635 |
LitVar | rs1060499635 |
Map | rs1060499635 |
PheGenI | rs1060499635 |
Biobank | rs1060499635 |
1000 genomes | rs1060499635 |
hgdp | rs1060499635 |
ensembl | rs1060499635 |
geneview | rs1060499635 |
scholar | rs1060499635 |
rs1060499635 | |
pharmgkb | rs1060499635 |
gwascentral | rs1060499635 |
openSNP | rs1060499635 |
23andMe | rs1060499635 |
SNPshot | rs1060499635 |
SNPdbe | rs1060499635 |
MSV3d | rs1060499635 |
GWAS Ctlg | rs1060499635 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499635(-;-) |
Alt | rs1060499635(-;-) |
Reference | Rs1060499635(CAGCAA;CAGCAA) |
Significance | Probable-Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241672058_241672063delTTGCTG |
CLNSRC | |
CLNACC | RCV000445627.1, |