rs199475590
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3 | Carrier of a phenylketonuria mutation |
(A;A) | 0 | common in clinvar |
Make rs199475590(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102843647 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs199475590 |
dbSNP (classic) | rs199475590 |
ClinGen | rs199475590 |
ebi | rs199475590 |
HLI | rs199475590 |
Exac | rs199475590 |
Gnomad | rs199475590 |
Varsome | rs199475590 |
LitVar | rs199475590 |
Map | rs199475590 |
PheGenI | rs199475590 |
Biobank | rs199475590 |
1000 genomes | rs199475590 |
hgdp | rs199475590 |
ensembl | rs199475590 |
geneview | rs199475590 |
scholar | rs199475590 |
rs199475590 | |
pharmgkb | rs199475590 |
gwascentral | rs199475590 |
openSNP | rs199475590 |
23andMe | rs199475590 |
SNPshot | rs199475590 |
SNPdbe | rs199475590 |
MSV3d | rs199475590 |
GWAS Ctlg | rs199475590 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs199475590(-;-) |
Alt | rs199475590(-;-) |
Reference | Rs199475590(A;A) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103237425delT |
CLNSRC | |
CLNACC | RCV000088788.1, |