rs1057519329

Orientation

minus

Stabilized

minus

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

Make rs1057519329(A;A)

Make rs1057519329(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

58534476

Gene	ACOX2, LOC107984079

is a	snp
is	mentioned by
dbSNP	rs1057519329
dbSNP (classic)	rs1057519329
ClinGen	rs1057519329
ebi	rs1057519329
HLI	rs1057519329
Exac	rs1057519329
Gnomad	rs1057519329
Varsome	rs1057519329
LitVar	rs1057519329
Map	rs1057519329
PheGenI	rs1057519329
Biobank	rs1057519329
1000 genomes	rs1057519329
hgdp	rs1057519329
ensembl	rs1057519329
geneview	rs1057519329
scholar	rs1057519329
google	rs1057519329
pharmgkb	rs1057519329
gwascentral	rs1057519329
openSNP	rs1057519329
23andMe	rs1057519329
SNPshot	rs1057519329
SNPdbe	rs1057519329
MSV3d	rs1057519329
GWAS Ctlg	rs1057519329

Max Magnitude

0

ClinVar
Risk	rs1057519329(A;A)
Alt	rs1057519329(A;A)
Reference	Rs1057519329(T;T)
Significance	Pathogenic
Disease	Bile acid synthesis defect
Variation	info
Gene	ACOX2
CLNDBN	Bile acid synthesis defect, congenital, 6
Reversed	1
HGVS	NC_000003.11:g.58520203A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416307.2,