rs397514402

Orientation

plus

Stabilized

plus

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

Make rs397514402(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645190

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514402
dbSNP (classic)	rs397514402
ClinGen	rs397514402
ebi	rs397514402
HLI	rs397514402
Exac	rs397514402
Gnomad	rs397514402
Varsome	rs397514402
LitVar	rs397514402
Map	rs397514402
PheGenI	rs397514402
Biobank	rs397514402
1000 genomes	rs397514402
hgdp	rs397514402
ensembl	rs397514402
geneview	rs397514402
scholar	rs397514402
google	rs397514402
pharmgkb	rs397514402
gwascentral	rs397514402
openSNP	rs397514402
23andMe	rs397514402
SNPshot	rs397514402
SNPdbe	rs397514402
MSV3d	rs397514402
GWAS Ctlg	rs397514402

Max Magnitude

3

ClinVar
Risk	rs397514402(T;T)
Alt	rs397514402(T;T)
Reference	Rs397514402(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686697G>T
CLNSRC	ARUP BTD
CLNACC	RCV000021985.1, RCV000022007.1,