rs80338896
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80338896(G;G) |
Make rs80338896(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 80172143 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs80338896 |
dbSNP (classic) | rs80338896 |
ClinGen | rs80338896 |
ebi | rs80338896 |
HLI | rs80338896 |
Exac | rs80338896 |
Gnomad | rs80338896 |
Varsome | rs80338896 |
LitVar | rs80338896 |
Map | rs80338896 |
PheGenI | rs80338896 |
Biobank | rs80338896 |
1000 genomes | rs80338896 |
hgdp | rs80338896 |
ensembl | rs80338896 |
geneview | rs80338896 |
scholar | rs80338896 |
rs80338896 | |
pharmgkb | rs80338896 |
gwascentral | rs80338896 |
openSNP | rs80338896 |
23andMe | rs80338896 |
SNPshot | rs80338896 |
SNPdbe | rs80338896 |
MSV3d | rs80338896 |
GWAS Ctlg | rs80338896 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338896(C;C) rs80338896(G;G) |
Alt | rs80338896(C;C) rs80338896(G;G) |
Reference | Rs80338896(T;T) |
Significance | Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80464485T>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020127.1, |