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rs62507336

From SNPedia

Orientationminus
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


Make rs62507336(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102855281
GenePAH
is asnp
is mentioned by
dbSNPrs62507336
ebirs62507336
HLIrs62507336
Exacrs62507336
Varsomers62507336
Maprs62507336
PheGenIrs62507336
hapmaprs62507336
1000 genomesrs62507336
hgdprs62507336
ensemblrs62507336
gopubmedrs62507336
geneviewrs62507336
scholarrs62507336
googlers62507336
pharmgkbrs62507336
gwascentralrs62507336
openSNPrs62507336
23andMers62507336
23andMe allrs62507336
SNP Nexus

SNPshotrs62507336
SNPdbers62507336
MSV3drs62507336
GWAS Ctlgrs62507336
Max Magnitude3
ClinVar
Risk rs62507336(A,C;A,C)
Alt rs62507336(A,C;A,C)
Reference rs62507336(G;G)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249059C>G; NC_000012.11:g.103249059C>T
CLNSRC
CLNACC RCV000088986.1, RCV000088985.1, RCV000169529.1,