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rs62644477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation


Make rs62644477(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102840483
GenePAH
is asnp
is mentioned by
dbSNPrs62644477
dbSNP (classic)rs62644477
ClinGenrs62644477
ebirs62644477
HLIrs62644477
Exacrs62644477
Gnomadrs62644477
Varsomers62644477
LitVarrs62644477
Maprs62644477
PheGenIrs62644477
Biobankrs62644477
1000 genomesrs62644477
hgdprs62644477
ensemblrs62644477
geneviewrs62644477
scholarrs62644477
googlers62644477
pharmgkbrs62644477
gwascentralrs62644477
openSNPrs62644477
23andMers62644477
SNPshotrs62644477
SNPdbers62644477
MSV3drs62644477
GWAS Ctlgrs62644477
Max Magnitude3
ClinVar
Risk rs62644477(A;A)
Alt rs62644477(A;A)
Reference Rs62644477(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103234261G>T
CLNSRC
CLNACC RCV000088810.1,