rs62517165
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a phenylketonuria mutation |
Make rs62517165(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102846958 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62517165 |
dbSNP (classic) | rs62517165 |
ClinGen | rs62517165 |
ebi | rs62517165 |
HLI | rs62517165 |
Exac | rs62517165 |
Gnomad | rs62517165 |
Varsome | rs62517165 |
LitVar | rs62517165 |
Map | rs62517165 |
PheGenI | rs62517165 |
Biobank | rs62517165 |
1000 genomes | rs62517165 |
hgdp | rs62517165 |
ensembl | rs62517165 |
geneview | rs62517165 |
scholar | rs62517165 |
rs62517165 | |
pharmgkb | rs62517165 |
gwascentral | rs62517165 |
openSNP | rs62517165 |
23andMe | rs62517165 |
SNPshot | rs62517165 |
SNPdbe | rs62517165 |
MSV3d | rs62517165 |
GWAS Ctlg | rs62517165 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62517165(G;G) |
Alt | rs62517165(G;G) |
Reference | Rs62517165(A;A) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103240736T>C |
CLNSRC | |
CLNACC | RCV000089156.1, |