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rs62514936

From SNPedia

Orientationminus
Geno Mag Summary
(-;AG) 3 Carrier of a phenylketonuria mutation
(GA;GA) 0 common in clinvar
Make rs62514936(-;-)
Make rs62514936(AG;AG)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102855178
GenePAH
is asnp
is mentioned by
dbSNPrs62514936
ebirs62514936
HLIrs62514936
Exacrs62514936
Varsomers62514936
Maprs62514936
PheGenIrs62514936
hapmaprs62514936
1000 genomesrs62514936
hgdprs62514936
ensemblrs62514936
gopubmedrs62514936
geneviewrs62514936
scholarrs62514936
googlers62514936
pharmgkbrs62514936
gwascentralrs62514936
openSNPrs62514936
23andMers62514936
23andMe allrs62514936
SNP Nexus

SNPshotrs62514936
SNPdbers62514936
MSV3drs62514936
GWAS Ctlgrs62514936
Max Magnitude3
ClinVar
Risk rs62514936(;)
Alt rs62514936(;)
Reference rs62514936(GA;GA)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103248955_103248956delTC
CLNSRC
CLNACC RCV000089025.1, RCV000169088.1,