rs587777443

Orientation

plus

Stabilized

plus

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

Make rs587777443(C;C)

Make rs587777443(C;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

119525259

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs587777443
dbSNP (classic)	rs587777443
ClinGen	rs587777443
ebi	rs587777443
HLI	rs587777443
Exac	rs587777443
Gnomad	rs587777443
Varsome	rs587777443
LitVar	rs587777443
Map	rs587777443
PheGenI	rs587777443
Biobank	rs587777443
1000 genomes	rs587777443
hgdp	rs587777443
ensembl	rs587777443
geneview	rs587777443
scholar	rs587777443
google	rs587777443
pharmgkb	rs587777443
gwascentral	rs587777443
openSNP	rs587777443
23andMe	rs587777443
SNPshot	rs587777443
SNPdbe	rs587777443
MSV3d	rs587777443
GWAS Ctlg	rs587777443

Max Magnitude

0

ClinVar
Risk	rs587777443(C;C)
Alt	rs587777443(C;C)
Reference	Rs587777443(T;T)
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.118860954T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000125466.3,