rs863223968
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Hereditary leiomyomatosis and renal cell cancer |
Make rs863223968(C;T) |
Make rs863223968(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241508638 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs863223968 |
dbSNP (classic) | rs863223968 |
ClinGen | rs863223968 |
ebi | rs863223968 |
HLI | rs863223968 |
Exac | rs863223968 |
Gnomad | rs863223968 |
Varsome | rs863223968 |
LitVar | rs863223968 |
Map | rs863223968 |
PheGenI | rs863223968 |
Biobank | rs863223968 |
1000 genomes | rs863223968 |
hgdp | rs863223968 |
ensembl | rs863223968 |
geneview | rs863223968 |
scholar | rs863223968 |
rs863223968 | |
pharmgkb | rs863223968 |
gwascentral | rs863223968 |
openSNP | rs863223968 |
23andMe | rs863223968 |
SNPshot | rs863223968 |
SNPdbe | rs863223968 |
MSV3d | rs863223968 |
GWAS Ctlg | rs863223968 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs863223968(G;G) rs863223968(T;T) |
Alt | rs863223968(G;G) rs863223968(T;T) |
Reference | Rs863223968(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Hereditary leiomyomatosis and renal cell cancer |
Variation | info |
Gene | FH |
CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer |
Reversed | 1 |
HGVS | NC_000001.10:g.241671938G>A; NC_000001.10:g.241671938G>C |
CLNSRC | |
CLNACC | RCV000199454.2, RCV000445621.1, |