rs397514439

Orientation

plus

Stabilized

plus

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

Make rs397514439(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15642005

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514439
dbSNP (classic)	rs397514439
ClinGen	rs397514439
ebi	rs397514439
HLI	rs397514439
Exac	rs397514439
Gnomad	rs397514439
Varsome	rs397514439
LitVar	rs397514439
Map	rs397514439
PheGenI	rs397514439
Biobank	rs397514439
1000 genomes	rs397514439
hgdp	rs397514439
ensembl	rs397514439
geneview	rs397514439
scholar	rs397514439
google	rs397514439
pharmgkb	rs397514439
gwascentral	rs397514439
openSNP	rs397514439
23andMe	rs397514439
SNPshot	rs397514439
SNPdbe	rs397514439
MSV3d	rs397514439
GWAS Ctlg	rs397514439

Max Magnitude

3

ClinVar
Risk	rs397514439(A;A)
Alt	rs397514439(A;A)
Reference	Rs397514439(-;-)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683512dupA
CLNSRC	ClinVar
CLNACC	RCV000032021.1,