rs121913121
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Associated with leiomyomatosis and possibly renal cell cancer |
Make rs121913121(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241513661 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs121913121 |
dbSNP (classic) | rs121913121 |
ClinGen | rs121913121 |
ebi | rs121913121 |
HLI | rs121913121 |
Exac | rs121913121 |
Gnomad | rs121913121 |
Varsome | rs121913121 |
LitVar | rs121913121 |
Map | rs121913121 |
PheGenI | rs121913121 |
Biobank | rs121913121 |
1000 genomes | rs121913121 |
hgdp | rs121913121 |
ensembl | rs121913121 |
geneview | rs121913121 |
scholar | rs121913121 |
rs121913121 | |
pharmgkb | rs121913121 |
gwascentral | rs121913121 |
openSNP | rs121913121 |
23andMe | rs121913121 |
SNPshot | rs121913121 |
SNPdbe | rs121913121 |
MSV3d | rs121913121 |
GWAS Ctlg | rs121913121 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs121913121(C;C) |
Alt | rs121913121(C;C) |
Reference | Rs121913121(A;A) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.241676961T>G |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017620.30, RCV000078148.6, RCV000493777.1, |