rs80338894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338894(G;T) |
Make rs80338894(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 80158170 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs80338894 |
dbSNP (classic) | rs80338894 |
ClinGen | rs80338894 |
ebi | rs80338894 |
HLI | rs80338894 |
Exac | rs80338894 |
Gnomad | rs80338894 |
Varsome | rs80338894 |
LitVar | rs80338894 |
Map | rs80338894 |
PheGenI | rs80338894 |
Biobank | rs80338894 |
1000 genomes | rs80338894 |
hgdp | rs80338894 |
ensembl | rs80338894 |
geneview | rs80338894 |
scholar | rs80338894 |
rs80338894 | |
pharmgkb | rs80338894 |
gwascentral | rs80338894 |
openSNP | rs80338894 |
23andMe | rs80338894 |
SNPshot | rs80338894 |
SNPdbe | rs80338894 |
MSV3d | rs80338894 |
GWAS Ctlg | rs80338894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338894(T;T) |
Alt | rs80338894(T;T) |
Reference | Rs80338894(G;G) |
Significance | Pathogenic |
Disease | Tyrosinemia type I not provided |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.80450512G>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000020126.2, RCV000153218.3, |