rs62507341
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs62507341(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102894931 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62507341 |
dbSNP (classic) | rs62507341 |
ClinGen | rs62507341 |
ebi | rs62507341 |
HLI | rs62507341 |
Exac | rs62507341 |
Gnomad | rs62507341 |
Varsome | rs62507341 |
LitVar | rs62507341 |
Map | rs62507341 |
PheGenI | rs62507341 |
Biobank | rs62507341 |
1000 genomes | rs62507341 |
hgdp | rs62507341 |
ensembl | rs62507341 |
geneview | rs62507341 |
scholar | rs62507341 |
rs62507341 | |
pharmgkb | rs62507341 |
gwascentral | rs62507341 |
openSNP | rs62507341 |
23andMe | rs62507341 |
SNPshot | rs62507341 |
SNPdbe | rs62507341 |
MSV3d | rs62507341 |
GWAS Ctlg | rs62507341 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62507341(G;G) |
Alt | rs62507341(G;G) |
Reference | Rs62507341(T;T) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103288709A>C |
CLNSRC | |
CLNACC | RCV000088853.1, |