rs727503926
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503926(A;A) |
Make rs727503926(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 241502525 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs727503926 |
dbSNP (classic) | rs727503926 |
ClinGen | rs727503926 |
ebi | rs727503926 |
HLI | rs727503926 |
Exac | rs727503926 |
Gnomad | rs727503926 |
Varsome | rs727503926 |
LitVar | rs727503926 |
Map | rs727503926 |
PheGenI | rs727503926 |
Biobank | rs727503926 |
1000 genomes | rs727503926 |
hgdp | rs727503926 |
ensembl | rs727503926 |
geneview | rs727503926 |
scholar | rs727503926 |
rs727503926 | |
pharmgkb | rs727503926 |
gwascentral | rs727503926 |
openSNP | rs727503926 |
23andMe | rs727503926 |
SNPshot | rs727503926 |
SNPdbe | rs727503926 |
MSV3d | rs727503926 |
GWAS Ctlg | rs727503926 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503926(A;A) |
Alt | rs727503926(A;A) |
Reference | Rs727503926(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome not specified Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary cancer-predisposing syndrome not specified Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241665825G>T |
CLNSRC | HGMD |
CLNACC | RCV000153234.6, RCV000217529.1, RCV000259107.1, RCV000445620.1, |