rs786204551
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786204551(-;-) |
Make rs786204551(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 80186139 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs786204551 |
dbSNP (classic) | rs786204551 |
ClinGen | rs786204551 |
ebi | rs786204551 |
HLI | rs786204551 |
Exac | rs786204551 |
Gnomad | rs786204551 |
Varsome | rs786204551 |
LitVar | rs786204551 |
Map | rs786204551 |
PheGenI | rs786204551 |
Biobank | rs786204551 |
1000 genomes | rs786204551 |
hgdp | rs786204551 |
ensembl | rs786204551 |
geneview | rs786204551 |
scholar | rs786204551 |
rs786204551 | |
pharmgkb | rs786204551 |
gwascentral | rs786204551 |
openSNP | rs786204551 |
23andMe | rs786204551 |
SNPshot | rs786204551 |
SNPdbe | rs786204551 |
MSV3d | rs786204551 |
GWAS Ctlg | rs786204551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204551(-;-) |
Alt | rs786204551(-;-) |
Reference | Rs786204551(A;A) |
Significance | Probable-Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80478481delA |
CLNSRC | |
CLNACC | RCV000169267.1, |