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rs28383468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 carrier of one CYP3A5*H30Y allele
(T;T) 2.5 CYP3A5*H30Y homozygote; nonexpressor for CYP3A5
ReferenceGRCh38 38.1/141
Chromosome7
Position99676192
GeneCYP3A5, ZSCAN25
is asnp
is mentioned by
dbSNPrs28383468
dbSNP (classic)rs28383468
ClinGenrs28383468
ebirs28383468
HLIrs28383468
Exacrs28383468
Gnomadrs28383468
Varsomers28383468
LitVarrs28383468
Maprs28383468
PheGenIrs28383468
Biobankrs28383468
1000 genomesrs28383468
hgdprs28383468
ensemblrs28383468
geneviewrs28383468
scholarrs28383468
googlers28383468
pharmgkbrs28383468
gwascentralrs28383468
openSNPrs28383468
23andMers28383468
SNPshotrs28383468
SNPdbers28383468
MSV3drs28383468
GWAS Ctlgrs28383468
GMAF0.00551
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28


rs28383468, also known as 3705C>T or H30Y, is a SNP in the CYP3A5 gene.

The rs28383468(T) allele defines the CYP3A5*H30Y variant, which is nonfunctional.