rs121913120
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
Make rs121913120(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241513680 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs121913120 |
dbSNP (classic) | rs121913120 |
ClinGen | rs121913120 |
ebi | rs121913120 |
HLI | rs121913120 |
Exac | rs121913120 |
Gnomad | rs121913120 |
Varsome | rs121913120 |
LitVar | rs121913120 |
Map | rs121913120 |
PheGenI | rs121913120 |
Biobank | rs121913120 |
1000 genomes | rs121913120 |
hgdp | rs121913120 |
ensembl | rs121913120 |
geneview | rs121913120 |
scholar | rs121913120 |
rs121913120 | |
pharmgkb | rs121913120 |
gwascentral | rs121913120 |
openSNP | rs121913120 |
23andMe | rs121913120 |
SNPshot | rs121913120 |
SNPdbe | rs121913120 |
MSV3d | rs121913120 |
GWAS Ctlg | rs121913120 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs121913120(T;T) |
Alt | rs121913120(T;T) |
Reference | Rs121913120(C;C) |
Significance | Pathogenic |
Disease | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | FH |
CLNDBN | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.241676980G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017619.29, RCV000130873.4, RCV000199330.3, |