rs397514356

Orientation

plus

Stabilized

plus

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

Make rs397514356(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641991

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514356
dbSNP (classic)	rs397514356
ClinGen	rs397514356
ebi	rs397514356
HLI	rs397514356
Exac	rs397514356
Gnomad	rs397514356
Varsome	rs397514356
LitVar	rs397514356
Map	rs397514356
PheGenI	rs397514356
Biobank	rs397514356
1000 genomes	rs397514356
hgdp	rs397514356
ensembl	rs397514356
geneview	rs397514356
scholar	rs397514356
google	rs397514356
pharmgkb	rs397514356
gwascentral	rs397514356
openSNP	rs397514356
23andMe	rs397514356
SNPshot	rs397514356
SNPdbe	rs397514356
MSV3d	rs397514356
GWAS Ctlg	rs397514356

Max Magnitude

3

ClinVar
Risk	rs397514356(-;-)
Alt	rs397514356(-;-)
Reference	Rs397514356(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683498delC
CLNSRC	ClinVar
CLNACC	RCV000021922.1,