rs387906825

Orientation

plus

Stabilized

plus

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

Make rs387906825(A;G)

Make rs387906825(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

119489219

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs387906825
dbSNP (classic)	rs387906825
ClinGen	rs387906825
ebi	rs387906825
HLI	rs387906825
Exac	rs387906825
Gnomad	rs387906825
Varsome	rs387906825
LitVar	rs387906825
Map	rs387906825
PheGenI	rs387906825
Biobank	rs387906825
1000 genomes	rs387906825
hgdp	rs387906825
ensembl	rs387906825
geneview	rs387906825
scholar	rs387906825
google	rs387906825
pharmgkb	rs387906825
gwascentral	rs387906825
openSNP	rs387906825
23andMe	rs387906825
SNPshot	rs387906825
SNPdbe	rs387906825
MSV3d	rs387906825
GWAS Ctlg	rs387906825

Max Magnitude

0

ClinVar
Risk	rs387906825(G;G)
Alt	rs387906825(G;G)
Reference	Rs387906825(A;A)
Significance	Pathogenic
Disease	Gonadal dysgenesis with auditory dysfunction
Variation	info
Gene	HSD17B4
CLNDBN	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed	0
HGVS	NC_000005.9:g.118824914A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023152.3,