Have questions? Visit https://www.reddit.com/r/SNPedia

rs62508646

From SNPedia

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


Make rs62508646(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102844356
GenePAH
is asnp
is mentioned by
dbSNPrs62508646
ebirs62508646
HLIrs62508646
Exacrs62508646
Varsomers62508646
Maprs62508646
PheGenIrs62508646
hapmaprs62508646
1000 genomesrs62508646
hgdprs62508646
ensemblrs62508646
gopubmedrs62508646
geneviewrs62508646
scholarrs62508646
googlers62508646
pharmgkbrs62508646
gwascentralrs62508646
openSNPrs62508646
23andMers62508646
23andMe allrs62508646
SNP Nexus

SNPshotrs62508646
SNPdbers62508646
MSV3drs62508646
GWAS Ctlgrs62508646
Max Magnitude3
OMIM612349
Desc
Variant0041
Relatedalso


ClinVar
Risk rs62508646(C,G;C,G)
Alt rs62508646(C,G;C,G)
Reference rs62508646(T;T)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238134A>C; NC_000012.11:g.103238134A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000088721.1, RCV000000646.6, RCV000078499.4,