rs1057516672

Orientation

plus

Stabilized

plus

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

Make rs1057516672(-;A)

Make rs1057516672(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119475721

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516672
dbSNP (classic)	rs1057516672
ClinGen	rs1057516672
ebi	rs1057516672
HLI	rs1057516672
Exac	rs1057516672
Gnomad	rs1057516672
Varsome	rs1057516672
LitVar	rs1057516672
Map	rs1057516672
PheGenI	rs1057516672
Biobank	rs1057516672
1000 genomes	rs1057516672
hgdp	rs1057516672
ensembl	rs1057516672
geneview	rs1057516672
scholar	rs1057516672
google	rs1057516672
pharmgkb	rs1057516672
gwascentral	rs1057516672
openSNP	rs1057516672
23andMe	rs1057516672
SNPshot	rs1057516672
SNPdbe	rs1057516672
MSV3d	rs1057516672
GWAS Ctlg	rs1057516672

Max Magnitude

0

ClinVar
Risk	rs1057516672(A;A)
Alt	rs1057516672(A;A)
Reference	Rs1057516672(-;-)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118811416dupA
CLNSRC
CLNACC	RCV000410199.1,