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rs202183605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs202183605(C;G)
Make rs202183605(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102844432
GenePAH
is asnp
is mentioned by
dbSNPrs202183605
dbSNP (old)rs202183605
ClinGenrs202183605
ebirs202183605
HLIrs202183605
Exacrs202183605
Gnomadrs202183605
Varsomers202183605
Maprs202183605
PheGenIrs202183605
Biobankrs202183605
1000 genomesrs202183605
hgdprs202183605
ensemblrs202183605
gopubmedrs202183605
geneviewrs202183605
scholarrs202183605
googlers202183605
pharmgkbrs202183605
gwascentralrs202183605
openSNPrs202183605
23andMers202183605
23andMe allrs202183605
SNP Nexus

SNPshotrs202183605
SNPdbers202183605
MSV3drs202183605
GWAS Ctlgrs202183605
Max Magnitude3
ClinVar
Risk rs202183605(G;G) rs202183605(T;T)
Alt rs202183605(G;G) rs202183605(T;T)
Reference Rs202183605(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 0
HGVS NC_000012.11:g.103238210C>T
CLNSRC ClinVar
CLNACC RCV000106379.1,