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rs62507321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
Make rs62507321(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102877457
GenePAH
is asnp
is mentioned by
dbSNPrs62507321
ebirs62507321
HLIrs62507321
Exacrs62507321
Varsomers62507321
Maprs62507321
PheGenIrs62507321
hapmaprs62507321
1000 genomesrs62507321
hgdprs62507321
ensemblrs62507321
gopubmedrs62507321
geneviewrs62507321
scholarrs62507321
googlers62507321
pharmgkbrs62507321
gwascentralrs62507321
openSNPrs62507321
23andMers62507321
23andMe allrs62507321
SNP Nexus

SNPshotrs62507321
SNPdbers62507321
MSV3drs62507321
GWAS Ctlgrs62507321
Max Magnitude3
ClinVar
Risk rs62507321(T;T)
Alt rs62507321(T;T)
Reference rs62507321(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103271235C>A
CLNSRC HGMD
CLNACC RCV000078521.5, RCV000150089.3,