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rs2403254

From SNPedia

Orientationplus
Stabilizedplus
Make rs2403254(C;C)
Make rs2403254(C;T)
Make rs2403254(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position18303599
GeneHPS5
is asnp
is mentioned by
dbSNPrs2403254
ebirs2403254
HLIrs2403254
Exacrs2403254
Varsomers2403254
Maprs2403254
PheGenIrs2403254
hapmaprs2403254
1000 genomesrs2403254
hgdprs2403254
ensemblrs2403254
gopubmedrs2403254
geneviewrs2403254
scholarrs2403254
googlers2403254
pharmgkbrs2403254
gwascentralrs2403254
openSNPrs2403254
23andMers2403254
23andMe allrs2403254
SNP Nexus

SNPshotrs2403254
SNPdbers2403254
MSV3drs2403254
GWAS Ctlgrs2403254
GMAF0.4518
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 21886157OA-icon.png]
Trait
Title Human metabolic individuality in biomedical and pharmaceutical research.
Risk Allele T
P-val 1E-20
Odds Ratio 0.1050 None
GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele T
P-val 1E-30
Odds Ratio .04 [0.033-0.049] unit decrease


ClinVar
Risk rs2403254(T;T)
Alt rs2403254(T;T)
Reference rs2403254(C;C)
Significance Other
Disease decreased blood alpha-hydroxyisovalerate levels
Variation info
Gene HPS5
CLNDBN decreased blood alpha-hydroxyisovalerate levels
Reversed 0
HGVS NC_000011.9:g.18325146C>T
CLNSRC
CLNACC RCV000170568.1,