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rs75193786

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 6 Phenyketonuria
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position102894893
GenePAH
is asnp
is mentioned by
dbSNPrs75193786
ebirs75193786
HLIrs75193786
Exacrs75193786
Varsomers75193786
Maprs75193786
PheGenIrs75193786
hapmaprs75193786
1000 genomesrs75193786
hgdprs75193786
ensemblrs75193786
gopubmedrs75193786
geneviewrs75193786
scholarrs75193786
googlers75193786
pharmgkbrs75193786
gwascentralrs75193786
openSNPrs75193786
23andMers75193786
23andMe allrs75193786
SNP Nexus

SNPshotrs75193786
SNPdbers75193786
MSV3drs75193786
GWAS Ctlgrs75193786
GMAF0.0004591
Max Magnitude6
OMIM612349
Desc
Variant0063
Relatedalso
ClinVar
Risk rs75193786(A,C,G;A,C,G)
Alt rs75193786(A,C,G;A,C,G)
Reference rs75193786(T;T)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288671A>C; NC_000012.11:g.103288671A>G; NC_000012.11:g.103288671A>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000088866.1, RCV000000668.6, RCV000078516.4, RCV000088865.1,