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rs759154440

From SNPedia

Orientationplus
Geno Mag Summary
(-;TC) 3 Carrier of a phenylketonuria mutation
(TC;TC) 0 common in clinvar


Make rs759154440(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102855177
GenePAH
is asnp
is mentioned by
dbSNPrs759154440
ebirs759154440
HLIrs759154440
Exacrs759154440
Varsomers759154440
Maprs759154440
PheGenIrs759154440
hapmaprs759154440
1000 genomesrs759154440
hgdprs759154440
ensemblrs759154440
gopubmedrs759154440
geneviewrs759154440
scholarrs759154440
googlers759154440
pharmgkbrs759154440
gwascentralrs759154440
openSNPrs759154440
23andMers759154440
23andMe allrs759154440
SNP Nexus

SNPshotrs759154440
SNPdbers759154440
MSV3drs759154440
GWAS Ctlgrs759154440
Max Magnitude3
ClinVar
Risk rs759154440(;)
Alt rs759154440(;)
Reference rs759154440(TC;TC)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 0
HGVS NC_000012.11:g.103248955_103248956delTC
CLNSRC
CLNACC RCV000089025.1, RCV000169088.1,