rs397514443

Orientation

plus

Stabilized

plus

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

Make rs397514443(-;C)

Make rs397514443(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30986176

Gene

HSD3B7

is a	snp
is	mentioned by
dbSNP	rs397514443
dbSNP (classic)	rs397514443
ClinGen	rs397514443
ebi	rs397514443
HLI	rs397514443
Exac	rs397514443
Gnomad	rs397514443
Varsome	rs397514443
LitVar	rs397514443
Map	rs397514443
PheGenI	rs397514443
Biobank	rs397514443
1000 genomes	rs397514443
hgdp	rs397514443
ensembl	rs397514443
geneview	rs397514443
scholar	rs397514443
google	rs397514443
pharmgkb	rs397514443
gwascentral	rs397514443
openSNP	rs397514443
23andMe	rs397514443
SNPshot	rs397514443
SNPdbe	rs397514443
MSV3d	rs397514443
GWAS Ctlg	rs397514443

Max Magnitude

0

ClinVar
Risk	rs397514443(C;C)
Alt	rs397514443(C;C)
Reference	Rs397514443(-;-)
Significance	Pathogenic
Disease	Bile acid synthesis defect
Variation	info
Gene	HSD3B7
CLNDBN	Bile acid synthesis defect, congenital, 1
Reversed	0
HGVS	NC_000016.9:g.30997497dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003016.3,