rs370686447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370686447(A;A) |
Make rs370686447(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 80168052 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs370686447 |
dbSNP (classic) | rs370686447 |
ClinGen | rs370686447 |
ebi | rs370686447 |
HLI | rs370686447 |
Exac | rs370686447 |
Gnomad | rs370686447 |
Varsome | rs370686447 |
LitVar | rs370686447 |
Map | rs370686447 |
PheGenI | rs370686447 |
Biobank | rs370686447 |
1000 genomes | rs370686447 |
hgdp | rs370686447 |
ensembl | rs370686447 |
geneview | rs370686447 |
scholar | rs370686447 |
rs370686447 | |
pharmgkb | rs370686447 |
gwascentral | rs370686447 |
openSNP | rs370686447 |
23andMe | rs370686447 |
SNPshot | rs370686447 |
SNPdbe | rs370686447 |
MSV3d | rs370686447 |
GWAS Ctlg | rs370686447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370686447(A;A) rs370686447(T;T) |
Alt | rs370686447(A;A) rs370686447(T;T) |
Reference | Rs370686447(G;G) |
Significance | Pathogenic |
Disease | not provided Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | not provided Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80460394G>A |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000078137.3, RCV000179256.1, |