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rs199475698

From SNPedia

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


Make rs199475698(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102877456
GenePAH
is asnp
is mentioned by
dbSNPrs199475698
ebirs199475698
HLIrs199475698
Exacrs199475698
Varsomers199475698
Maprs199475698
PheGenIrs199475698
hapmaprs199475698
1000 genomesrs199475698
hgdprs199475698
ensemblrs199475698
gopubmedrs199475698
geneviewrs199475698
scholarrs199475698
googlers199475698
pharmgkbrs199475698
gwascentralrs199475698
openSNPrs199475698
23andMers199475698
23andMe allrs199475698
SNP Nexus

SNPshotrs199475698
SNPdbers199475698
MSV3drs199475698
GWAS Ctlgrs199475698
Max Magnitude3
ClinVar
Risk rs199475698(A,C;A,C)
Alt rs199475698(A,C;A,C)
Reference rs199475698(T;T)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103271234A>G; NC_000012.11:g.103271234A>T
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000088923.1, RCV000106356.1,