rs771712041
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs771712041(A;A) |
Make rs771712041(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 80172148 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs771712041 |
dbSNP (classic) | rs771712041 |
ClinGen | rs771712041 |
ebi | rs771712041 |
HLI | rs771712041 |
Exac | rs771712041 |
Gnomad | rs771712041 |
Varsome | rs771712041 |
LitVar | rs771712041 |
Map | rs771712041 |
PheGenI | rs771712041 |
Biobank | rs771712041 |
1000 genomes | rs771712041 |
hgdp | rs771712041 |
ensembl | rs771712041 |
geneview | rs771712041 |
scholar | rs771712041 |
rs771712041 | |
pharmgkb | rs771712041 |
gwascentral | rs771712041 |
openSNP | rs771712041 |
23andMe | rs771712041 |
SNPshot | rs771712041 |
SNPdbe | rs771712041 |
MSV3d | rs771712041 |
GWAS Ctlg | rs771712041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771712041(A;A) rs771712041(C;C) |
Alt | rs771712041(A;A) rs771712041(C;C) |
Reference | Rs771712041(G;G) |
Significance | Probable-Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80464490G>A |
CLNSRC | |
CLNACC | RCV000169069.1, |