rs199822819
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199822819(C;C) |
Make rs199822819(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241512001 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs199822819 |
dbSNP (classic) | rs199822819 |
ClinGen | rs199822819 |
ebi | rs199822819 |
HLI | rs199822819 |
Exac | rs199822819 |
Gnomad | rs199822819 |
Varsome | rs199822819 |
LitVar | rs199822819 |
Map | rs199822819 |
PheGenI | rs199822819 |
Biobank | rs199822819 |
1000 genomes | rs199822819 |
hgdp | rs199822819 |
ensembl | rs199822819 |
geneview | rs199822819 |
scholar | rs199822819 |
rs199822819 | |
pharmgkb | rs199822819 |
gwascentral | rs199822819 |
openSNP | rs199822819 |
23andMe | rs199822819 |
SNPshot | rs199822819 |
SNPdbe | rs199822819 |
MSV3d | rs199822819 |
GWAS Ctlg | rs199822819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199822819(C;C) |
Alt | rs199822819(C;C) |
Reference | Rs199822819(G;G) |
Significance | Other |
Disease | Fumarase deficiency not provided Multiple Cutaneous and Uterine Leiomyomas Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FH |
CLNDBN | Fumarase deficiency not provided Multiple Cutaneous and Uterine Leiomyomas Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.241675301G>C |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000022554.34, RCV000078149.5, RCV000304166.1, RCV000353057.1, RCV000492836.1, |