rs781496816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs781496816(C;T) |
Make rs781496816(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 80168116 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs781496816 |
dbSNP (classic) | rs781496816 |
ClinGen | rs781496816 |
ebi | rs781496816 |
HLI | rs781496816 |
Exac | rs781496816 |
Gnomad | rs781496816 |
Varsome | rs781496816 |
LitVar | rs781496816 |
Map | rs781496816 |
PheGenI | rs781496816 |
Biobank | rs781496816 |
1000 genomes | rs781496816 |
hgdp | rs781496816 |
ensembl | rs781496816 |
geneview | rs781496816 |
scholar | rs781496816 |
rs781496816 | |
pharmgkb | rs781496816 |
gwascentral | rs781496816 |
openSNP | rs781496816 |
23andMe | rs781496816 |
SNPshot | rs781496816 |
SNPdbe | rs781496816 |
MSV3d | rs781496816 |
GWAS Ctlg | rs781496816 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781496816(T;T) |
Alt | rs781496816(T;T) |
Reference | Rs781496816(C;C) |
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.80460458C>T |
CLNSRC | |
CLNACC | RCV000169065.1, RCV000413278.1, |