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rs199475634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199475634(C;G)
Make rs199475634(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894904
GenePAH
is asnp
is mentioned by
dbSNPrs199475634
ebirs199475634
HLIrs199475634
Exacrs199475634
Varsomers199475634
Maprs199475634
PheGenIrs199475634
hapmaprs199475634
1000 genomesrs199475634
hgdprs199475634
ensemblrs199475634
gopubmedrs199475634
geneviewrs199475634
scholarrs199475634
googlers199475634
pharmgkbrs199475634
gwascentralrs199475634
openSNPrs199475634
23andMers199475634
23andMe allrs199475634
SNP Nexus

SNPshotrs199475634
SNPdbers199475634
MSV3drs199475634
GWAS Ctlgrs199475634
Max Magnitude0
ClinVar
Risk rs199475634(A,G;A,G)
Alt rs199475634(A,G;A,G)
Reference rs199475634(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288682G>C; NC_000012.11:g.103288682G>T
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000088860.1, RCV000106350.1,