rs886043708

Orientation

plus

Stabilized

plus

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

Chromosome

5

Position

119527148

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs886043708
dbSNP (classic)	rs886043708
ClinGen	rs886043708
ebi	rs886043708
HLI	rs886043708
Exac	rs886043708
Gnomad	rs886043708
Varsome	rs886043708
LitVar	rs886043708
Map	rs886043708
PheGenI	rs886043708
Biobank	rs886043708
1000 genomes	rs886043708
hgdp	rs886043708
ensembl	rs886043708
geneview	rs886043708
scholar	rs886043708
google	rs886043708
pharmgkb	rs886043708
gwascentral	rs886043708
openSNP	rs886043708
23andMe	rs886043708
SNPshot	rs886043708
SNPdbe	rs886043708
MSV3d	rs886043708
GWAS Ctlg	rs886043708

Max Magnitude

0

ClinVar
Risk	rs886043708(AA;AA)
Alt	rs886043708(AA;AA)
Reference	Rs886043708(CCAGTAT;CCAGTAT)
Significance	Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118862843_118862849delCCAGTATinsAA
CLNSRC
CLNACC	RCV000303201.1,