rs62508731
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a phenylketonuria mutation |
(G;G) | 0 | common in clinvar |
Make rs62508731(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102852918 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62508731 |
dbSNP (classic) | rs62508731 |
ClinGen | rs62508731 |
ebi | rs62508731 |
HLI | rs62508731 |
Exac | rs62508731 |
Gnomad | rs62508731 |
Varsome | rs62508731 |
LitVar | rs62508731 |
Map | rs62508731 |
PheGenI | rs62508731 |
Biobank | rs62508731 |
1000 genomes | rs62508731 |
hgdp | rs62508731 |
ensembl | rs62508731 |
geneview | rs62508731 |
scholar | rs62508731 |
rs62508731 | |
pharmgkb | rs62508731 |
gwascentral | rs62508731 |
openSNP | rs62508731 |
23andMe | rs62508731 |
SNPshot | rs62508731 |
SNPdbe | rs62508731 |
MSV3d | rs62508731 |
GWAS Ctlg | rs62508731 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62508731(A;A) rs62508731(C;C) |
Alt | rs62508731(A;A) rs62508731(C;C) |
Reference | Rs62508731(G;G) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103246696C>G; NC_000012.11:g.103246696C>T |
CLNSRC | |
CLNACC | RCV000089071.1, RCV000089070.1, |