rs772190176
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs772190176(C;T) |
Make rs772190176(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 241506090 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs772190176 |
dbSNP (classic) | rs772190176 |
ClinGen | rs772190176 |
ebi | rs772190176 |
HLI | rs772190176 |
Exac | rs772190176 |
Gnomad | rs772190176 |
Varsome | rs772190176 |
LitVar | rs772190176 |
Map | rs772190176 |
PheGenI | rs772190176 |
Biobank | rs772190176 |
1000 genomes | rs772190176 |
hgdp | rs772190176 |
ensembl | rs772190176 |
geneview | rs772190176 |
scholar | rs772190176 |
rs772190176 | |
pharmgkb | rs772190176 |
gwascentral | rs772190176 |
openSNP | rs772190176 |
23andMe | rs772190176 |
SNPshot | rs772190176 |
SNPdbe | rs772190176 |
MSV3d | rs772190176 |
GWAS Ctlg | rs772190176 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772190176(T;T) |
Alt | rs772190176(T;T) |
Reference | Rs772190176(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Fumarase deficiency |
Variation | info |
Gene | FH |
CLNDBN | not provided Fumarase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.241669390C>T |
CLNSRC | |
CLNACC | RCV000200636.1, RCV000467363.1, |