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rs199475680

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475680(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102877503
GenePAH
is asnp
is mentioned by
dbSNPrs199475680
ebirs199475680
HLIrs199475680
Exacrs199475680
Varsomers199475680
Maprs199475680
PheGenIrs199475680
hapmaprs199475680
1000 genomesrs199475680
hgdprs199475680
ensemblrs199475680
gopubmedrs199475680
geneviewrs199475680
scholarrs199475680
googlers199475680
pharmgkbrs199475680
gwascentralrs199475680
openSNPrs199475680
23andMers199475680
23andMe allrs199475680
SNP Nexus

SNPshotrs199475680
SNPdbers199475680
MSV3drs199475680
GWAS Ctlgrs199475680
Max Magnitude3
ClinVar
Risk rs199475680(T;T)
Alt rs199475680(T;T)
Reference rs199475680(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103271281G>A
CLNSRC
CLNACC RCV000088912.1, RCV000169559.1,