rs281865165
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs281865165(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102912804 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs281865165 |
dbSNP (classic) | rs281865165 |
ClinGen | rs281865165 |
ebi | rs281865165 |
HLI | rs281865165 |
Exac | rs281865165 |
Gnomad | rs281865165 |
Varsome | rs281865165 |
LitVar | rs281865165 |
Map | rs281865165 |
PheGenI | rs281865165 |
Biobank | rs281865165 |
1000 genomes | rs281865165 |
hgdp | rs281865165 |
ensembl | rs281865165 |
geneview | rs281865165 |
scholar | rs281865165 |
rs281865165 | |
pharmgkb | rs281865165 |
gwascentral | rs281865165 |
openSNP | rs281865165 |
23andMe | rs281865165 |
SNPshot | rs281865165 |
SNPdbe | rs281865165 |
MSV3d | rs281865165 |
GWAS Ctlg | rs281865165 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs281865165(-;-) |
Alt | rs281865165(-;-) |
Reference | Rs281865165(T;T) |
Significance | Untested |
Disease | Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103306582delA |
CLNSRC | |
CLNACC | RCV000106392.1, |