rs199475614
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199475614(G;G) |
Make rs199475614(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 102844409 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs199475614 |
dbSNP (classic) | rs199475614 |
ClinGen | rs199475614 |
ebi | rs199475614 |
HLI | rs199475614 |
Exac | rs199475614 |
Gnomad | rs199475614 |
Varsome | rs199475614 |
LitVar | rs199475614 |
Map | rs199475614 |
PheGenI | rs199475614 |
Biobank | rs199475614 |
1000 genomes | rs199475614 |
hgdp | rs199475614 |
ensembl | rs199475614 |
geneview | rs199475614 |
scholar | rs199475614 |
rs199475614 | |
pharmgkb | rs199475614 |
gwascentral | rs199475614 |
openSNP | rs199475614 |
23andMe | rs199475614 |
SNPshot | rs199475614 |
SNPdbe | rs199475614 |
MSV3d | rs199475614 |
GWAS Ctlg | rs199475614 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199475614(C;C) rs199475614(G;G) |
Alt | rs199475614(C;C) rs199475614(G;G) |
Reference | Rs199475614(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103238187A>C; NC_000012.11:g.103238187A>G |
CLNSRC | |
CLNACC | RCV000089193.1, RCV000410352.1, |