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rs199475606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199475606(G;T)
Make rs199475606(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102877518
GenePAH
is asnp
is mentioned by
dbSNPrs199475606
dbSNP (classic)rs199475606
ClinGenrs199475606
ebirs199475606
HLIrs199475606
Exacrs199475606
Gnomadrs199475606
Varsomers199475606
LitVarrs199475606
Maprs199475606
PheGenIrs199475606
Biobankrs199475606
1000 genomesrs199475606
hgdprs199475606
ensemblrs199475606
geneviewrs199475606
scholarrs199475606
googlers199475606
pharmgkbrs199475606
gwascentralrs199475606
openSNPrs199475606
23andMers199475606
SNPshotrs199475606
SNPdbers199475606
MSV3drs199475606
GWAS Ctlgrs199475606
Max Magnitude0
ClinVar
Risk rs199475606(T;T)
Alt rs199475606(T;T)
Reference Rs199475606(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103271296C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000088907.3,