Have questions? Visit https://www.reddit.com/r/SNPedia

rs62517178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs62517178(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102852942
GenePAH
is asnp
is mentioned by
dbSNPrs62517178
dbSNP (classic)rs62517178
ClinGenrs62517178
ebirs62517178
HLIrs62517178
Exacrs62517178
Gnomadrs62517178
Varsomers62517178
LitVarrs62517178
Maprs62517178
PheGenIrs62517178
Biobankrs62517178
1000 genomesrs62517178
hgdprs62517178
ensemblrs62517178
geneviewrs62517178
scholarrs62517178
googlers62517178
pharmgkbrs62517178
gwascentralrs62517178
openSNPrs62517178
23andMers62517178
SNPshotrs62517178
SNPdbers62517178
MSV3drs62517178
GWAS Ctlgrs62517178
Max Magnitude3
ClinVar
Risk rs62517178(A;A)
Alt rs62517178(A;A)
Reference Rs62517178(G;G)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246720C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000089048.1,