rs28943592

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs28943592(C;T)

Make rs28943592(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

119536489

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs28943592
dbSNP (classic)	rs28943592
ClinGen	rs28943592
ebi	rs28943592
HLI	rs28943592
Exac	rs28943592
Gnomad	rs28943592
Varsome	rs28943592
LitVar	rs28943592
Map	rs28943592
PheGenI	rs28943592
Biobank	rs28943592
1000 genomes	rs28943592
hgdp	rs28943592
ensembl	rs28943592
geneview	rs28943592
scholar	rs28943592
google	rs28943592
pharmgkb	rs28943592
gwascentral	rs28943592
openSNP	rs28943592
23andMe	rs28943592
SNPshot	rs28943592
SNPdbe	rs28943592
MSV3d	rs28943592
GWAS Ctlg	rs28943592

GMAF

0.01469

Max Magnitude

0

[PMID 22265031] Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure

ClinVar
Risk	rs28943592(T;T)
Alt	rs28943592(T;T)
Reference	Rs28943592(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Perrault Syndrome Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	not specified Perrault Syndrome Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118872184C>T
CLNSRC
CLNACC	RCV000218324.1, RCV000301707.1, RCV000361158.1,