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rs62508575

From SNPedia

Orientationminus
Geno Mag Summary
(G;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
Make rs62508575(C;C)
Make rs62508575(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102917129
GenePAH
is asnp
is mentioned by
dbSNPrs62508575
ebirs62508575
HLIrs62508575
Exacrs62508575
Varsomers62508575
Maprs62508575
PheGenIrs62508575
hapmaprs62508575
1000 genomesrs62508575
hgdprs62508575
ensemblrs62508575
gopubmedrs62508575
geneviewrs62508575
scholarrs62508575
googlers62508575
pharmgkbrs62508575
gwascentralrs62508575
openSNPrs62508575
23andMers62508575
23andMe allrs62508575
SNP Nexus

SNPshotrs62508575
SNPdbers62508575
MSV3drs62508575
GWAS Ctlgrs62508575
Max Magnitude3
ClinVar
Risk rs62508575(C,G;C,G)
Alt rs62508575(C,G;C,G)
Reference rs62508575(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103310907A>C; NC_000012.11:g.103310907A>G
CLNSRC
CLNACC RCV000088893.1, RCV000186076.1,