rs137853097

plus

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

Reference

GRCh38 38.1/141

Chromosome

5

Position

119509176

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs137853097
dbSNP (classic)	rs137853097
ClinGen	rs137853097
ebi	rs137853097
HLI	rs137853097
Exac	rs137853097
Gnomad	rs137853097
Varsome	rs137853097
LitVar	rs137853097
Map	rs137853097
PheGenI	rs137853097
Biobank	rs137853097
1000 genomes	rs137853097
hgdp	rs137853097
ensembl	rs137853097
geneview	rs137853097
scholar	rs137853097
google	rs137853097
pharmgkb	rs137853097
gwascentral	rs137853097
openSNP	rs137853097
23andMe	rs137853097
SNPshot	rs137853097
SNPdbe	rs137853097
MSV3d	rs137853097
GWAS Ctlg	rs137853097

Max Magnitude

7

aka c.1369A>T (p.Asn457Tyr or N457Y), and also c.1369A>G (p.Asn457Asp or N457D); the former is considered in ClinVar to be pathogenic, the latter likely to be pathogenic

23andMe name for c.1369A>T: i5007146

OMIM	601860
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853097(G;G) Rs137853097(T;T)
Alt	rs137853097(G;G) Rs137853097(T;T)
Reference	Rs137853097(A;A)
Significance	Other
Disease	Bifunctional peroxisomal enzyme deficiency not provided Gonadal dysgenesis with auditory dysfunction
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency not provided Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed	0
HGVS	NC_000005.9:g.118844871A>G; NC_000005.9:g.118844871A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000410433.1, RCV000008095.2, RCV000385297.1, RCV000477799.1,