rs137853096

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7	DBP deficiency (predicted)
(A;G)	3	Carrier of a DBP deficiency mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

5

Position

119452621

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs137853096
dbSNP (classic)	rs137853096
ClinGen	rs137853096
ebi	rs137853096
HLI	rs137853096
Exac	rs137853096
Gnomad	rs137853096
Varsome	rs137853096
LitVar	rs137853096
Map	rs137853096
PheGenI	rs137853096
Biobank	rs137853096
1000 genomes	rs137853096
hgdp	rs137853096
ensembl	rs137853096
geneview	rs137853096
scholar	rs137853096
google	rs137853096
pharmgkb	rs137853096
gwascentral	rs137853096
openSNP	rs137853096
23andMe	rs137853096
SNPshot	rs137853096
SNPdbe	rs137853096
MSV3d	rs137853096
GWAS Ctlg	rs137853096

Max Magnitude

7

aka c.46G>A (p.Gly16Ser or G16S)

23andMe name: i5007145

OMIM	601860
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs137853096(A;A) rs137853096(C;C)
Alt	Rs137853096(A;A) rs137853096(C;C)
Reference	Rs137853096(G;G)
Significance	Other
Disease	Bifunctional peroxisomal enzyme deficiency not provided
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency not provided
Reversed	0
HGVS	NC_000005.9:g.118788316G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008094.4, RCV000415821.1,