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rs62644499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62644499(A;A)
Make rs62644499(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102840472
GenePAH
is asnp
is mentioned by
dbSNPrs62644499
ebirs62644499
HLIrs62644499
Exacrs62644499
Varsomers62644499
Maprs62644499
PheGenIrs62644499
hapmaprs62644499
1000 genomesrs62644499
hgdprs62644499
ensemblrs62644499
gopubmedrs62644499
geneviewrs62644499
scholarrs62644499
googlers62644499
pharmgkbrs62644499
gwascentralrs62644499
openSNPrs62644499
23andMers62644499
23andMe allrs62644499
SNP Nexus

SNPshotrs62644499
SNPdbers62644499
MSV3drs62644499
GWAS Ctlgrs62644499
Max Magnitude0
OMIM612349
Desc
Variant0043
Relatedalso
ClinVar
Risk rs62644499(A;A)
Alt rs62644499(A;A)
Reference rs62644499(G;G)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided
Reversed 1
HGVS NC_000012.11:g.103234250C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000648.3, RCV000088815.2,