rs779642226
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs779642226(-;-) |
Make rs779642226(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 80162319 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs779642226 |
dbSNP (classic) | rs779642226 |
ClinGen | rs779642226 |
ebi | rs779642226 |
HLI | rs779642226 |
Exac | rs779642226 |
Gnomad | rs779642226 |
Varsome | rs779642226 |
LitVar | rs779642226 |
Map | rs779642226 |
PheGenI | rs779642226 |
Biobank | rs779642226 |
1000 genomes | rs779642226 |
hgdp | rs779642226 |
ensembl | rs779642226 |
geneview | rs779642226 |
scholar | rs779642226 |
rs779642226 | |
pharmgkb | rs779642226 |
gwascentral | rs779642226 |
openSNP | rs779642226 |
23andMe | rs779642226 |
SNPshot | rs779642226 |
SNPdbe | rs779642226 |
MSV3d | rs779642226 |
GWAS Ctlg | rs779642226 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779642226(-;-) |
Alt | rs779642226(-;-) |
Reference | Rs779642226(T;T) |
Significance | Probable-Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80454661delT |
CLNSRC | |
CLNACC | RCV000410205.1, |