rs587777442

Orientation

plus

Stabilized

plus

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

Make rs587777442(C;T)

Make rs587777442(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

119456357

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs587777442
dbSNP (classic)	rs587777442
ClinGen	rs587777442
ebi	rs587777442
HLI	rs587777442
Exac	rs587777442
Gnomad	rs587777442
Varsome	rs587777442
LitVar	rs587777442
Map	rs587777442
PheGenI	rs587777442
Biobank	rs587777442
1000 genomes	rs587777442
hgdp	rs587777442
ensembl	rs587777442
geneview	rs587777442
scholar	rs587777442
google	rs587777442
pharmgkb	rs587777442
gwascentral	rs587777442
openSNP	rs587777442
23andMe	rs587777442
SNPshot	rs587777442
SNPdbe	rs587777442
MSV3d	rs587777442
GWAS Ctlg	rs587777442

Max Magnitude

0

ClinVar
Risk	rs587777442(T;T)
Alt	rs587777442(T;T)
Reference	Rs587777442(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.118792052C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000125465.2,