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rs62516092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of Phenylketonuria allele
(G;G) 6 Phenyketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102844359
GenePAH
is asnp
is mentioned by
dbSNPrs62516092
ebirs62516092
HLIrs62516092
Exacrs62516092
Varsomers62516092
Maprs62516092
PheGenIrs62516092
hapmaprs62516092
1000 genomesrs62516092
hgdprs62516092
ensemblrs62516092
gopubmedrs62516092
geneviewrs62516092
scholarrs62516092
googlers62516092
pharmgkbrs62516092
gwascentralrs62516092
openSNPrs62516092
23andMers62516092
23andMe allrs62516092
SNP Nexus

SNPshotrs62516092
SNPdbers62516092
MSV3drs62516092
GWAS Ctlgrs62516092
Max Magnitude6
ClinVar
Risk rs62516092(G;G)
Alt rs62516092(G;G)
Reference rs62516092(C;C)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238137G>C
CLNSRC HGMD
CLNACC RCV000078498.3, RCV000150080.3,