rs397514397

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;C)	3	Carrier of a biotinidase deficiency mutation
(C;C)	0	common in clinvar

Make rs397514397(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644905

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514397
dbSNP (classic)	rs397514397
ClinGen	rs397514397
ebi	rs397514397
HLI	rs397514397
Exac	rs397514397
Gnomad	rs397514397
Varsome	rs397514397
LitVar	rs397514397
Map	rs397514397
PheGenI	rs397514397
Biobank	rs397514397
1000 genomes	rs397514397
hgdp	rs397514397
ensembl	rs397514397
geneview	rs397514397
scholar	rs397514397
google	rs397514397
pharmgkb	rs397514397
gwascentral	rs397514397
openSNP	rs397514397
23andMe	rs397514397
SNPshot	rs397514397
SNPdbe	rs397514397
MSV3d	rs397514397
GWAS Ctlg	rs397514397

Max Magnitude

3

ClinVar
Risk	rs397514397(-;-)
Alt	rs397514397(-;-)
Reference	Rs397514397(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686412delC
CLNSRC	ClinVar
CLNACC	RCV000021979.1,