rs201395553
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201395553(A;A) |
Make rs201395553(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 241506015 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs201395553 |
dbSNP (classic) | rs201395553 |
ClinGen | rs201395553 |
ebi | rs201395553 |
HLI | rs201395553 |
Exac | rs201395553 |
Gnomad | rs201395553 |
Varsome | rs201395553 |
LitVar | rs201395553 |
Map | rs201395553 |
PheGenI | rs201395553 |
Biobank | rs201395553 |
1000 genomes | rs201395553 |
hgdp | rs201395553 |
ensembl | rs201395553 |
geneview | rs201395553 |
scholar | rs201395553 |
rs201395553 | |
pharmgkb | rs201395553 |
gwascentral | rs201395553 |
openSNP | rs201395553 |
23andMe | rs201395553 |
SNPshot | rs201395553 |
SNPdbe | rs201395553 |
MSV3d | rs201395553 |
GWAS Ctlg | rs201395553 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201395553(A;A) rs201395553(G;G) |
Alt | rs201395553(A;A) rs201395553(G;G) |
Reference | Rs201395553(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | not specified not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.241669315C>G |
CLNSRC | |
CLNACC | RCV000179258.1, RCV000442479.1, RCV000445630.1, RCV000493248.1, |