rs397514409

Orientation

plus

Stabilized

plus

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

Make rs397514409(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645105

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514409
dbSNP (classic)	rs397514409
ClinGen	rs397514409
ebi	rs397514409
HLI	rs397514409
Exac	rs397514409
Gnomad	rs397514409
Varsome	rs397514409
LitVar	rs397514409
Map	rs397514409
PheGenI	rs397514409
Biobank	rs397514409
1000 genomes	rs397514409
hgdp	rs397514409
ensembl	rs397514409
geneview	rs397514409
scholar	rs397514409
google	rs397514409
pharmgkb	rs397514409
gwascentral	rs397514409
openSNP	rs397514409
23andMe	rs397514409
SNPshot	rs397514409
SNPdbe	rs397514409
MSV3d	rs397514409
GWAS Ctlg	rs397514409

Max Magnitude

3

ClinVar
Risk	rs397514409(T;T)
Alt	rs397514409(T;T)
Reference	Rs397514409(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686612G>T
CLNSRC	ARUP BTD
CLNACC	RCV000021995.1,