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rs1042503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 1 Benign polymorphism (likely)
(G;G) 0 common in clinvar


Make rs1042503(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852922
GenePAH
is asnp
is mentioned by
dbSNPrs1042503
dbSNP (old)rs1042503
ClinGenrs1042503
ebirs1042503
HLIrs1042503
Exacrs1042503
Gnomadrs1042503
Varsomers1042503
Maprs1042503
PheGenIrs1042503
Biobankrs1042503
1000 genomesrs1042503
hgdprs1042503
ensemblrs1042503
gopubmedrs1042503
geneviewrs1042503
scholarrs1042503
googlers1042503
pharmgkbrs1042503
gwascentralrs1042503
openSNPrs1042503
23andMers1042503
23andMe allrs1042503
SNPshotrs1042503
SNPdbers1042503
MSV3drs1042503
GWAS Ctlgrs1042503
Max Magnitude1
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs1042503(A;A)
Alt rs1042503(A;A)
Reference Rs1042503(G;G)
Significance Probable-Pathogenic
Disease not specified not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not specified not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246700C>T
CLNSRC
CLNACC RCV000078529.6, RCV000089066.1, RCV000297921.1, RCV000454199.1,