rs62507338
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs62507338(A;A) |
Make rs62507338(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102852911 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62507338 |
dbSNP (classic) | rs62507338 |
ClinGen | rs62507338 |
ebi | rs62507338 |
HLI | rs62507338 |
Exac | rs62507338 |
Gnomad | rs62507338 |
Varsome | rs62507338 |
LitVar | rs62507338 |
Map | rs62507338 |
PheGenI | rs62507338 |
Biobank | rs62507338 |
1000 genomes | rs62507338 |
hgdp | rs62507338 |
ensembl | rs62507338 |
geneview | rs62507338 |
scholar | rs62507338 |
rs62507338 | |
pharmgkb | rs62507338 |
gwascentral | rs62507338 |
openSNP | rs62507338 |
23andMe | rs62507338 |
SNPshot | rs62507338 |
SNPdbe | rs62507338 |
MSV3d | rs62507338 |
GWAS Ctlg | rs62507338 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62507338(A;A) |
Alt | rs62507338(A;A) |
Reference | Rs62507338(T;T) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103246689A>T |
CLNSRC | |
CLNACC | RCV000089077.1, |