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rs5030849

From SNPedia

Mild Phenylketonuria
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 PHENYLKETONURIA, MILD
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position102852875
GenePAH
is asnp
is mentioned by
dbSNPrs5030849
ebirs5030849
HLIrs5030849
Exacrs5030849
Varsomers5030849
Maprs5030849
PheGenIrs5030849
hapmaprs5030849
1000 genomesrs5030849
hgdprs5030849
ensemblrs5030849
gopubmedrs5030849
geneviewrs5030849
scholarrs5030849
googlers5030849
pharmgkbrs5030849
gwascentralrs5030849
openSNPrs5030849
23andMers5030849
23andMe allrs5030849
SNP Nexus

SNPshotrs5030849
SNPdbers5030849
MSV3drs5030849
GWAS Ctlgrs5030849
Max Magnitude6
? (A;A) (A;G) (G;G) 28
OMIM261600
DescPHENYLKETONURIA, MILD
Variant0006
Relatedalso
OMIM612349
Desc
Variant0006
Relatedalso


ClinVar
Risk rs5030849(A,C;A,C)
Alt rs5030849(A,C;A,C)
Reference rs5030849(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246653C>G; NC_000012.11:g.103246653C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000089091.1, RCV000000612.6, RCV000078530.5,