rs1057516310

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CAGA;CAGA)	0	common in clinvar

Make rs1057516310(-;-)

Make rs1057516310(-;ACAG)

Make rs1057516310(ACAG;ACAG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119479006

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516310
dbSNP (classic)	rs1057516310
ClinGen	rs1057516310
ebi	rs1057516310
HLI	rs1057516310
Exac	rs1057516310
Gnomad	rs1057516310
Varsome	rs1057516310
LitVar	rs1057516310
Map	rs1057516310
PheGenI	rs1057516310
Biobank	rs1057516310
1000 genomes	rs1057516310
hgdp	rs1057516310
ensembl	rs1057516310
geneview	rs1057516310
scholar	rs1057516310
google	rs1057516310
pharmgkb	rs1057516310
gwascentral	rs1057516310
openSNP	rs1057516310
23andMe	rs1057516310
SNPshot	rs1057516310
SNPdbe	rs1057516310
MSV3d	rs1057516310
GWAS Ctlg	rs1057516310

Max Magnitude

0

ClinVar
Risk	rs1057516310(-;-)
Alt	rs1057516310(-;-)
Reference	Rs1057516310(CAGA;CAGA)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118814701_118814704delACAG
CLNSRC
CLNACC	RCV000410593.1,