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rs62514895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(C;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
Make rs62514895(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102917066
GenePAH
is asnp
is mentioned by
dbSNPrs62514895
ebirs62514895
HLIrs62514895
Exacrs62514895
Varsomers62514895
Maprs62514895
PheGenIrs62514895
hapmaprs62514895
1000 genomesrs62514895
hgdprs62514895
ensemblrs62514895
gopubmedrs62514895
geneviewrs62514895
scholarrs62514895
googlers62514895
pharmgkbrs62514895
gwascentralrs62514895
openSNPrs62514895
23andMers62514895
23andMe allrs62514895
SNP Nexus

SNPshotrs62514895
SNPdbers62514895
MSV3drs62514895
GWAS Ctlgrs62514895
Max Magnitude3
ClinVar
Risk rs62514895(A,T;A,T)
Alt rs62514895(A,T;A,T)
Reference rs62514895(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103310844C>A; NC_000012.11:g.103310844C>T
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000089000.2, RCV000173096.1, RCV000106362.1,