rs397514442

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CT)	3	Likely miscall in Ancestry v2c data; otherwise, carrier of a bile acid synthesis defect mutation
(CT;CT)	0	common in clinvar

Make rs397514442(-;-)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30988112

Gene

HSD3B7

is a	snp
is	mentioned by
dbSNP	rs397514442
dbSNP (classic)	rs397514442
ClinGen	rs397514442
ebi	rs397514442
HLI	rs397514442
Exac	rs397514442
Gnomad	rs397514442
Varsome	rs397514442
LitVar	rs397514442
Map	rs397514442
PheGenI	rs397514442
Biobank	rs397514442
1000 genomes	rs397514442
hgdp	rs397514442
ensembl	rs397514442
geneview	rs397514442
scholar	rs397514442
google	rs397514442
pharmgkb	rs397514442
gwascentral	rs397514442
openSNP	rs397514442
23andMe	rs397514442
SNPshot	rs397514442
SNPdbe	rs397514442
MSV3d	rs397514442
GWAS Ctlg	rs397514442

Max Magnitude

3

c.1039_1040delCT (p.Leu347Valfs)

ClinVar
Risk	rs397514442(-;-)
Alt	rs397514442(-;-)
Reference	Rs397514442(CT;CT)
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.30999433_30999434delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003015.4,