rs397514420

Orientation

plus

Stabilized

plus

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

Make rs397514420(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645240

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514420
dbSNP (classic)	rs397514420
ClinGen	rs397514420
ebi	rs397514420
HLI	rs397514420
Exac	rs397514420
Gnomad	rs397514420
Varsome	rs397514420
LitVar	rs397514420
Map	rs397514420
PheGenI	rs397514420
Biobank	rs397514420
1000 genomes	rs397514420
hgdp	rs397514420
ensembl	rs397514420
geneview	rs397514420
scholar	rs397514420
google	rs397514420
pharmgkb	rs397514420
gwascentral	rs397514420
openSNP	rs397514420
23andMe	rs397514420
SNPshot	rs397514420
SNPdbe	rs397514420
MSV3d	rs397514420
GWAS Ctlg	rs397514420

Max Magnitude

3

ClinVar
Risk	rs397514420(-;-)
Alt	rs397514420(-;-)
Reference	Rs397514420(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686747delA
CLNSRC	ClinVar
CLNACC	RCV000022011.1,