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

rs786204457

From SNPedia

Orientationminus
Geno Mag Summary
(AA;GG) 3 Carrier of a phenylketonuria mutation
(GG;GG) 0 common in clinvar


Make rs786204457(AA;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102912790
GenePAH
is asnp
is mentioned by
dbSNPrs786204457
ebirs786204457
HLIrs786204457
Exacrs786204457
Varsomers786204457
Maprs786204457
PheGenIrs786204457
hapmaprs786204457
1000 genomesrs786204457
hgdprs786204457
ensemblrs786204457
gopubmedrs786204457
geneviewrs786204457
scholarrs786204457
googlers786204457
pharmgkbrs786204457
gwascentralrs786204457
openSNPrs786204457
23andMers786204457
23andMe allrs786204457
SNP Nexus

SNPshotrs786204457
SNPdbers786204457
MSV3drs786204457
GWAS Ctlgrs786204457
Max Magnitude3
ClinVar
Risk rs786204457(AA;AA)
Alt rs786204457(AA;AA)
Reference rs786204457(GG;GG)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103306568_103306569delCCinsTT
CLNSRC
CLNACC RCV000169094.1,