rs2403254

Orientation

plus

Stabilized

plus

Make rs2403254(C;C)

Make rs2403254(C;T)

Make rs2403254(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

18303599

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs2403254
dbSNP (classic)	rs2403254
ClinGen	rs2403254
ebi	rs2403254
HLI	rs2403254
Exac	rs2403254
Gnomad	rs2403254
Varsome	rs2403254
LitVar	rs2403254
Map	rs2403254
PheGenI	rs2403254
Biobank	rs2403254
1000 genomes	rs2403254
hgdp	rs2403254
ensembl	rs2403254
geneview	rs2403254
scholar	rs2403254
google	rs2403254
pharmgkb	rs2403254
gwascentral	rs2403254
openSNP	rs2403254
23andMe	rs2403254
SNPshot	rs2403254
SNPdbe	rs2403254
MSV3d	rs2403254
GWAS Ctlg	rs2403254

GMAF

0.4518

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

GWAS snp
PMID	[PMID 21886157]
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 24816252]
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,