rs587777444

Orientation

plus

Stabilized

plus

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

Make rs587777444(C;T)

Make rs587777444(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

119525250

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs587777444
dbSNP (classic)	rs587777444
ClinGen	rs587777444
ebi	rs587777444
HLI	rs587777444
Exac	rs587777444
Gnomad	rs587777444
Varsome	rs587777444
LitVar	rs587777444
Map	rs587777444
PheGenI	rs587777444
Biobank	rs587777444
1000 genomes	rs587777444
hgdp	rs587777444
ensembl	rs587777444
geneview	rs587777444
scholar	rs587777444
google	rs587777444
pharmgkb	rs587777444
gwascentral	rs587777444
openSNP	rs587777444
23andMe	rs587777444
SNPshot	rs587777444
SNPdbe	rs587777444
MSV3d	rs587777444
GWAS Ctlg	rs587777444

Max Magnitude

0

ClinVar
Risk	rs587777444(T;T)
Alt	rs587777444(T;T)
Reference	Rs587777444(C;C)
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.118860945C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000125467.3,