rs202166344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202166344(A;A) |
Make rs202166344(A;C) |
Make rs202166344(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241519716 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs202166344 |
dbSNP (classic) | rs202166344 |
ClinGen | rs202166344 |
ebi | rs202166344 |
HLI | rs202166344 |
Exac | rs202166344 |
Gnomad | rs202166344 |
Varsome | rs202166344 |
LitVar | rs202166344 |
Map | rs202166344 |
PheGenI | rs202166344 |
Biobank | rs202166344 |
1000 genomes | rs202166344 |
hgdp | rs202166344 |
ensembl | rs202166344 |
geneview | rs202166344 |
scholar | rs202166344 |
rs202166344 | |
pharmgkb | rs202166344 |
gwascentral | rs202166344 |
openSNP | rs202166344 |
23andMe | rs202166344 |
SNPshot | rs202166344 |
SNPdbe | rs202166344 |
MSV3d | rs202166344 |
GWAS Ctlg | rs202166344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202166344(A;A) rs202166344(C;C) |
Alt | rs202166344(A;A) rs202166344(C;C) |
Reference | Rs202166344(G;G) |
Significance | Pathogenic |
Disease | not provided not specified Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Multiple Cutaneous and Uterine Leiomyomas |
Variation | info |
Gene | FH |
CLNDBN | not provided not specified Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Multiple Cutaneous and Uterine Leiomyomas |
Reversed | 0 |
HGVS | NC_000001.10:g.241683016G>A; NC_000001.10:g.241683016G>C |
CLNSRC | |
CLNACC | RCV000196918.2, RCV000195609.4, RCV000204400.4, RCV000346414.1, RCV000399999.1, |