rs199475644
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs199475644(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 102852851 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs199475644 |
dbSNP (classic) | rs199475644 |
ClinGen | rs199475644 |
ebi | rs199475644 |
HLI | rs199475644 |
Exac | rs199475644 |
Gnomad | rs199475644 |
Varsome | rs199475644 |
LitVar | rs199475644 |
Map | rs199475644 |
PheGenI | rs199475644 |
Biobank | rs199475644 |
1000 genomes | rs199475644 |
hgdp | rs199475644 |
ensembl | rs199475644 |
geneview | rs199475644 |
scholar | rs199475644 |
rs199475644 | |
pharmgkb | rs199475644 |
gwascentral | rs199475644 |
openSNP | rs199475644 |
23andMe | rs199475644 |
SNPshot | rs199475644 |
SNPdbe | rs199475644 |
MSV3d | rs199475644 |
GWAS Ctlg | rs199475644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199475644(A;A) |
Alt | rs199475644(A;A) |
Reference | Rs199475644(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103246629A>T |
CLNSRC | |
CLNACC | RCV000089102.2, |