rs1060499630
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499630(C;T) |
Make rs1060499630(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241513659 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs1060499630 |
dbSNP (classic) | rs1060499630 |
ClinGen | rs1060499630 |
ebi | rs1060499630 |
HLI | rs1060499630 |
Exac | rs1060499630 |
Gnomad | rs1060499630 |
Varsome | rs1060499630 |
LitVar | rs1060499630 |
Map | rs1060499630 |
PheGenI | rs1060499630 |
Biobank | rs1060499630 |
1000 genomes | rs1060499630 |
hgdp | rs1060499630 |
ensembl | rs1060499630 |
geneview | rs1060499630 |
scholar | rs1060499630 |
rs1060499630 | |
pharmgkb | rs1060499630 |
gwascentral | rs1060499630 |
openSNP | rs1060499630 |
23andMe | rs1060499630 |
SNPshot | rs1060499630 |
SNPdbe | rs1060499630 |
MSV3d | rs1060499630 |
GWAS Ctlg | rs1060499630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499630(T;T) |
Alt | rs1060499630(T;T) |
Reference | Rs1060499630(C;C) |
Significance | 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.241676959G>A |
CLNSRC | |
CLNACC | RCV000445632.1, |