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rs199475614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199475614(G;G)
Make rs199475614(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102844409
GenePAH
is asnp
is mentioned by
dbSNPrs199475614
dbSNP (classic)rs199475614
ClinGenrs199475614
ebirs199475614
HLIrs199475614
Exacrs199475614
Gnomadrs199475614
Varsomers199475614
LitVarrs199475614
Maprs199475614
PheGenIrs199475614
Biobankrs199475614
1000 genomesrs199475614
hgdprs199475614
ensemblrs199475614
geneviewrs199475614
scholarrs199475614
googlers199475614
pharmgkbrs199475614
gwascentralrs199475614
openSNPrs199475614
23andMers199475614
SNPshotrs199475614
SNPdbers199475614
MSV3drs199475614
GWAS Ctlgrs199475614
Max Magnitude0
ClinVar
Risk rs199475614(C;C) rs199475614(G;G)
Alt rs199475614(C;C) rs199475614(G;G)
Reference Rs199475614(T;T)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238187A>C; NC_000012.11:g.103238187A>G
CLNSRC
CLNACC RCV000089193.1, RCV000410352.1,