rs772895065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs772895065(C;C) |
Make rs772895065(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 80153137 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs772895065 |
dbSNP (classic) | rs772895065 |
ClinGen | rs772895065 |
ebi | rs772895065 |
HLI | rs772895065 |
Exac | rs772895065 |
Gnomad | rs772895065 |
Varsome | rs772895065 |
LitVar | rs772895065 |
Map | rs772895065 |
PheGenI | rs772895065 |
Biobank | rs772895065 |
1000 genomes | rs772895065 |
hgdp | rs772895065 |
ensembl | rs772895065 |
geneview | rs772895065 |
scholar | rs772895065 |
rs772895065 | |
pharmgkb | rs772895065 |
gwascentral | rs772895065 |
openSNP | rs772895065 |
23andMe | rs772895065 |
SNPshot | rs772895065 |
SNPdbe | rs772895065 |
MSV3d | rs772895065 |
GWAS Ctlg | rs772895065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772895065(A;A) rs772895065(C;C) |
Alt | rs772895065(A;A) rs772895065(C;C) |
Reference | Rs772895065(T;T) |
Significance | Probable-Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80445479T>A; NC_000015.9:g.80445479T>C |
CLNSRC | |
CLNACC | RCV000454161.1, RCV000409344.1, |