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rs199475610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199475610(C;T)
Make rs199475610(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852920
GenePAH
is asnp
is mentioned by
dbSNPrs199475610
dbSNP (old)rs199475610
ClinGenrs199475610
ebirs199475610
HLIrs199475610
Exacrs199475610
Gnomadrs199475610
Varsomers199475610
Maprs199475610
PheGenIrs199475610
Biobankrs199475610
1000 genomesrs199475610
hgdprs199475610
ensemblrs199475610
gopubmedrs199475610
geneviewrs199475610
scholarrs199475610
googlers199475610
pharmgkbrs199475610
gwascentralrs199475610
openSNPrs199475610
23andMers199475610
23andMe allrs199475610
SNPshotrs199475610
SNPdbers199475610
MSV3drs199475610
GWAS Ctlgrs199475610
Max Magnitude0
ClinVar
Risk rs199475610(A;A) rs199475610(T;T)
Alt rs199475610(A;A) rs199475610(T;T)
Reference Rs199475610(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246698G>A; NC_000012.11:g.103246698G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000089068.1, RCV000089067.2,