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rs76687508

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs76687508(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852936
GenePAH
is asnp
is mentioned by
dbSNPrs76687508
ebirs76687508
HLIrs76687508
Exacrs76687508
Varsomers76687508
Maprs76687508
PheGenIrs76687508
hapmaprs76687508
1000 genomesrs76687508
hgdprs76687508
ensemblrs76687508
gopubmedrs76687508
geneviewrs76687508
scholarrs76687508
googlers76687508
pharmgkbrs76687508
gwascentralrs76687508
openSNPrs76687508
23andMers76687508
23andMe allrs76687508
SNP Nexus

SNPshotrs76687508
SNPdbers76687508
MSV3drs76687508
GWAS Ctlgrs76687508
Max Magnitude3
ClinVar
Risk rs76687508(T;T)
Alt rs76687508(T;T)
Reference rs76687508(C;C)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246714G>A
CLNSRC HGMD
CLNACC RCV000089054.2, RCV000153635.3,