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rs63581460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
(I;I) 0 common genotype


Make rs63581460(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102844377
GenePAH
is asnp
is mentioned by
dbSNPrs63581460
dbSNP (classic)rs63581460
ClinGenrs63581460
ebirs63581460
HLIrs63581460
Exacrs63581460
Gnomadrs63581460
Varsomers63581460
LitVarrs63581460
Maprs63581460
PheGenIrs63581460
Biobankrs63581460
1000 genomesrs63581460
hgdprs63581460
ensemblrs63581460
geneviewrs63581460
scholarrs63581460
googlers63581460
pharmgkbrs63581460
gwascentralrs63581460
openSNPrs63581460
23andMers63581460
SNPshotrs63581460
SNPdbers63581460
MSV3drs63581460
GWAS Ctlgrs63581460
Max Magnitude3
ClinVar
Risk rs63581460(-;-)
Alt rs63581460(-;-)
Reference Rs63581460(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238155delC
CLNSRC
CLNACC RCV000088706.2, RCV000412182.1,