rs78655458
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs78655458(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 102852828 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs78655458 |
dbSNP (classic) | rs78655458 |
ClinGen | rs78655458 |
ebi | rs78655458 |
HLI | rs78655458 |
Exac | rs78655458 |
Gnomad | rs78655458 |
Varsome | rs78655458 |
LitVar | rs78655458 |
Map | rs78655458 |
PheGenI | rs78655458 |
Biobank | rs78655458 |
1000 genomes | rs78655458 |
hgdp | rs78655458 |
ensembl | rs78655458 |
geneview | rs78655458 |
scholar | rs78655458 |
rs78655458 | |
pharmgkb | rs78655458 |
gwascentral | rs78655458 |
openSNP | rs78655458 |
23andMe | rs78655458 |
SNPshot | rs78655458 |
SNPdbe | rs78655458 |
MSV3d | rs78655458 |
GWAS Ctlg | rs78655458 |
Merged from | Rs28934276 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs78655458(G;G) |
Alt | rs78655458(G;G) |
Reference | Rs78655458(T;T) |
Significance | Pathogenic |
Disease | Phenylketonuria not provided |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103246606A>C |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000634.6, RCV000078531.5, |