rs2066479

Orientation

minus

Stabilized

minus

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

Make rs2066479(A;A)

Make rs2066479(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96235528

Gene

HSD17B3

is a	snp
is	mentioned by
dbSNP	rs2066479
dbSNP (classic)	rs2066479
ClinGen	rs2066479
ebi	rs2066479
HLI	rs2066479
Exac	rs2066479
Gnomad	rs2066479
Varsome	rs2066479
LitVar	rs2066479
Map	rs2066479
PheGenI	rs2066479
Biobank	rs2066479
1000 genomes	rs2066479
hgdp	rs2066479
ensembl	rs2066479
geneview	rs2066479
scholar	rs2066479
google	rs2066479
pharmgkb	rs2066479
gwascentral	rs2066479
openSNP	rs2066479
23andMe	rs2066479
SNPshot	rs2066479
SNPdbe	rs2066479
MSV3d	rs2066479
GWAS Ctlg	rs2066479

GMAF

0.1171

Max Magnitude

0

[PMID 23139742] Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes

?	(A;A) (A;G) (G;G)

[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

ClinVar
Risk	rs2066479(A;A) rs2066479(C;C) rs2066479(T;T)
Alt	rs2066479(A;A) rs2066479(C;C) rs2066479(T;T)
Reference	Rs2066479(G;G)
Significance	Probable-non-pathogenic
Disease	not specified 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
Variation	info
Gene	HSD17B3
CLNDBN	not specified 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
Reversed	1
HGVS	NC_000009.11:g.98997810C>T
CLNSRC
CLNACC	RCV000249456.1, RCV000334343.1,