rs1057516750

Orientation

plus

Stabilized

plus

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

Make rs1057516750(-;-)

Make rs1057516750(-;TTTG)

Make rs1057516750(TTTG;TTTG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119489278

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516750
dbSNP (classic)	rs1057516750
ClinGen	rs1057516750
ebi	rs1057516750
HLI	rs1057516750
Exac	rs1057516750
Gnomad	rs1057516750
Varsome	rs1057516750
LitVar	rs1057516750
Map	rs1057516750
PheGenI	rs1057516750
Biobank	rs1057516750
1000 genomes	rs1057516750
hgdp	rs1057516750
ensembl	rs1057516750
geneview	rs1057516750
scholar	rs1057516750
google	rs1057516750
pharmgkb	rs1057516750
gwascentral	rs1057516750
openSNP	rs1057516750
23andMe	rs1057516750
SNPshot	rs1057516750
SNPdbe	rs1057516750
MSV3d	rs1057516750
GWAS Ctlg	rs1057516750

Max Magnitude

0

ClinVar
Risk	rs1057516750(-;-)
Alt	rs1057516750(-;-)
Reference	Rs1057516750(TTGT;TTGT)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118824973_118824976delTTTG
CLNSRC
CLNACC	RCV000410752.1,