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rs62508578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62508578(A;G)
Make rs62508578(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102844427
GenePAH
is asnp
is mentioned by
dbSNPrs62508578
ebirs62508578
HLIrs62508578
Exacrs62508578
Varsomers62508578
Maprs62508578
PheGenIrs62508578
hapmaprs62508578
1000 genomesrs62508578
hgdprs62508578
ensemblrs62508578
gopubmedrs62508578
geneviewrs62508578
scholarrs62508578
googlers62508578
pharmgkbrs62508578
gwascentralrs62508578
openSNPrs62508578
23andMers62508578
23andMe allrs62508578
SNP Nexus

SNPshotrs62508578
SNPdbers62508578
MSV3drs62508578
GWAS Ctlgrs62508578
Max Magnitude0
ClinVar
Risk rs62508578(G;G)
Alt rs62508578(G;G)
Reference rs62508578(A;A)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238205T>C
CLNSRC HGMD
CLNACC RCV000078541.3, RCV000150081.3,