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rs62514950

From SNPedia

Orientationminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs62514950(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852848
GenePAH
is asnp
is mentioned by
dbSNPrs62514950
ebirs62514950
HLIrs62514950
Exacrs62514950
Varsomers62514950
Maprs62514950
PheGenIrs62514950
hapmaprs62514950
1000 genomesrs62514950
hgdprs62514950
ensemblrs62514950
gopubmedrs62514950
geneviewrs62514950
scholarrs62514950
googlers62514950
pharmgkbrs62514950
gwascentralrs62514950
openSNPrs62514950
23andMers62514950
23andMe allrs62514950
SNP Nexus

SNPshotrs62514950
SNPdbers62514950
MSV3drs62514950
GWAS Ctlgrs62514950
Max Magnitude3
ClinVar
Risk rs62514950(A;A)
Alt rs62514950(A;A)
Reference rs62514950(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246626C>T
CLNSRC HGMD
CLNACC RCV000089105.1, RCV000153632.3,