rs62507323
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs62507323(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102855171 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62507323 |
dbSNP (classic) | rs62507323 |
ClinGen | rs62507323 |
ebi | rs62507323 |
HLI | rs62507323 |
Exac | rs62507323 |
Gnomad | rs62507323 |
Varsome | rs62507323 |
LitVar | rs62507323 |
Map | rs62507323 |
PheGenI | rs62507323 |
Biobank | rs62507323 |
1000 genomes | rs62507323 |
hgdp | rs62507323 |
ensembl | rs62507323 |
geneview | rs62507323 |
scholar | rs62507323 |
rs62507323 | |
pharmgkb | rs62507323 |
gwascentral | rs62507323 |
openSNP | rs62507323 |
23andMe | rs62507323 |
SNPshot | rs62507323 |
SNPdbe | rs62507323 |
MSV3d | rs62507323 |
GWAS Ctlg | rs62507323 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62507323(C;C) |
Alt | rs62507323(C;C) |
Reference | Rs62507323(T;T) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103248949A>G |
CLNSRC | |
CLNACC | RCV000089028.1, |