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rs77958223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs77958223(A;G)
Make rs77958223(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102855309
GenePAH
is asnp
is mentioned by
dbSNPrs77958223
ebirs77958223
HLIrs77958223
Exacrs77958223
Varsomers77958223
Maprs77958223
PheGenIrs77958223
hapmaprs77958223
1000 genomesrs77958223
hgdprs77958223
ensemblrs77958223
gopubmedrs77958223
geneviewrs77958223
scholarrs77958223
googlers77958223
pharmgkbrs77958223
gwascentralrs77958223
openSNPrs77958223
23andMers77958223
23andMe allrs77958223
SNP Nexus

SNPshotrs77958223
SNPdbers77958223
MSV3drs77958223
GWAS Ctlgrs77958223
Max Magnitude0
ClinVar
Risk rs77958223(G,T;G,T)
Alt rs77958223(G,T;G,T)
Reference rs77958223(A;A)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249087T>A; NC_000012.11:g.103249087T>C
CLNSRC HGMD
CLNACC RCV000088977.1, RCV000078526.4, RCV000150087.3,