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rs199475661

From SNPedia

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


Make rs199475661(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102866602
GenePAH
is asnp
is mentioned by
dbSNPrs199475661
dbSNP (old)rs199475661
ClinGenrs199475661
ebirs199475661
HLIrs199475661
Exacrs199475661
Gnomadrs199475661
Varsomers199475661
Maprs199475661
PheGenIrs199475661
Biobankrs199475661
1000 genomesrs199475661
hgdprs199475661
ensemblrs199475661
gopubmedrs199475661
geneviewrs199475661
scholarrs199475661
googlers199475661
pharmgkbrs199475661
gwascentralrs199475661
openSNPrs199475661
23andMers199475661
23andMe allrs199475661
SNP Nexus

SNPshotrs199475661
SNPdbers199475661
MSV3drs199475661
GWAS Ctlgrs199475661
Max Magnitude3
ClinVar
Risk rs199475661(-;-)
Alt rs199475661(-;-)
Reference Rs199475661(A;A)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103260380delT
CLNSRC
CLNACC RCV000088953.1, RCV000375882.1,