rs76394784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs76394784(A;A) |
Make rs76394784(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 102894883 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs76394784 |
dbSNP (classic) | rs76394784 |
ClinGen | rs76394784 |
ebi | rs76394784 |
HLI | rs76394784 |
Exac | rs76394784 |
Gnomad | rs76394784 |
Varsome | rs76394784 |
LitVar | rs76394784 |
Map | rs76394784 |
PheGenI | rs76394784 |
Biobank | rs76394784 |
1000 genomes | rs76394784 |
hgdp | rs76394784 |
ensembl | rs76394784 |
geneview | rs76394784 |
scholar | rs76394784 |
rs76394784 | |
pharmgkb | rs76394784 |
gwascentral | rs76394784 |
openSNP | rs76394784 |
23andMe | rs76394784 |
SNPshot | rs76394784 |
SNPdbe | rs76394784 |
MSV3d | rs76394784 |
GWAS Ctlg | rs76394784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76394784(A;A) |
Alt | rs76394784(A;A) |
Reference | Rs76394784(T;T) |
Significance | Other |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 0 |
HGVS | NC_000012.11:g.103288661T>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078517.5, RCV000150091.6, |