rs779707997
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs779707997(C;C) |
Make rs779707997(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241511968 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs779707997 |
dbSNP (classic) | rs779707997 |
ClinGen | rs779707997 |
ebi | rs779707997 |
HLI | rs779707997 |
Exac | rs779707997 |
Gnomad | rs779707997 |
Varsome | rs779707997 |
LitVar | rs779707997 |
Map | rs779707997 |
PheGenI | rs779707997 |
Biobank | rs779707997 |
1000 genomes | rs779707997 |
hgdp | rs779707997 |
ensembl | rs779707997 |
geneview | rs779707997 |
scholar | rs779707997 |
rs779707997 | |
pharmgkb | rs779707997 |
gwascentral | rs779707997 |
openSNP | rs779707997 |
23andMe | rs779707997 |
SNPshot | rs779707997 |
SNPdbe | rs779707997 |
MSV3d | rs779707997 |
GWAS Ctlg | rs779707997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779707997(C;C) |
Alt | rs779707997(C;C) |
Reference | Rs779707997(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.241675268T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000196456.2, RCV000445603.1, RCV000494490.1, |