rs121965076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121965076(G;T) |
Make rs121965076(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 80181069 |
Gene | FAH |
is a | snp |
is | mentioned by |
dbSNP | rs121965076 |
dbSNP (classic) | rs121965076 |
ClinGen | rs121965076 |
ebi | rs121965076 |
HLI | rs121965076 |
Exac | rs121965076 |
Gnomad | rs121965076 |
Varsome | rs121965076 |
LitVar | rs121965076 |
Map | rs121965076 |
PheGenI | rs121965076 |
Biobank | rs121965076 |
1000 genomes | rs121965076 |
hgdp | rs121965076 |
ensembl | rs121965076 |
geneview | rs121965076 |
scholar | rs121965076 |
rs121965076 | |
pharmgkb | rs121965076 |
gwascentral | rs121965076 |
openSNP | rs121965076 |
23andMe | rs121965076 |
SNPshot | rs121965076 |
SNPdbe | rs121965076 |
MSV3d | rs121965076 |
GWAS Ctlg | rs121965076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965076(T;T) |
Alt | rs121965076(T;T) |
Reference | Rs121965076(G;G) |
Significance | Pathogenic |
Disease | Tyrosinemia type I |
Variation | info |
Gene | FAH |
CLNDBN | Tyrosinemia type I |
Reversed | 0 |
HGVS | NC_000015.9:g.80473411G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012642.3, |