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rs62508698

From SNPedia

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


Make rs62508698(A;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position102852819
GenePAH
is asnp
is mentioned by
dbSNPrs62508698
ebirs62508698
HLIrs62508698
Exacrs62508698
Varsomers62508698
Maprs62508698
PheGenIrs62508698
hapmaprs62508698
1000 genomesrs62508698
hgdprs62508698
ensemblrs62508698
gopubmedrs62508698
geneviewrs62508698
scholarrs62508698
googlers62508698
pharmgkbrs62508698
gwascentralrs62508698
openSNPrs62508698
23andMers62508698
23andMe allrs62508698
SNP Nexus

SNPshotrs62508698
SNPdbers62508698
MSV3drs62508698
GWAS Ctlgrs62508698
Max Magnitude3
OMIM612349
Desc
Variant0004
Relatedalso


ClinVar
Risk rs62508698(A,C;A,C)
Alt rs62508698(A,C;A,C)
Reference rs62508698(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246597C>G; NC_000012.11:g.103246597C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000089125.1, RCV000000610.6, RCV000078532.5,