rs1057516631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057516631(G;G) |
Make rs1057516631(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 80186207 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs1057516631 |
dbSNP (classic) | rs1057516631 |
ClinGen | rs1057516631 |
ebi | rs1057516631 |
HLI | rs1057516631 |
Exac | rs1057516631 |
Gnomad | rs1057516631 |
Varsome | rs1057516631 |
LitVar | rs1057516631 |
Map | rs1057516631 |
PheGenI | rs1057516631 |
Biobank | rs1057516631 |
1000 genomes | rs1057516631 |
hgdp | rs1057516631 |
ensembl | rs1057516631 |
geneview | rs1057516631 |
scholar | rs1057516631 |
rs1057516631 | |
pharmgkb | rs1057516631 |
gwascentral | rs1057516631 |
openSNP | rs1057516631 |
23andMe | rs1057516631 |
SNPshot | rs1057516631 |
SNPdbe | rs1057516631 |
MSV3d | rs1057516631 |
GWAS Ctlg | rs1057516631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516631(C;C) rs1057516631(G;G) |
Alt | rs1057516631(C;C) rs1057516631(G;G) |
Reference | Rs1057516631(T;T) |
Significance | Probable-Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80478549T>C; NC_000015.9:g.80478549T>G |
CLNSRC | |
CLNACC | RCV000410008.1, RCV000409632.1, |