rs397514392

Orientation

plus

Stabilized

plus

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

Make rs397514392(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644752

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514392
dbSNP (classic)	rs397514392
ClinGen	rs397514392
ebi	rs397514392
HLI	rs397514392
Exac	rs397514392
Gnomad	rs397514392
Varsome	rs397514392
LitVar	rs397514392
Map	rs397514392
PheGenI	rs397514392
Biobank	rs397514392
1000 genomes	rs397514392
hgdp	rs397514392
ensembl	rs397514392
geneview	rs397514392
scholar	rs397514392
google	rs397514392
pharmgkb	rs397514392
gwascentral	rs397514392
openSNP	rs397514392
23andMe	rs397514392
SNPshot	rs397514392
SNPdbe	rs397514392
MSV3d	rs397514392
GWAS Ctlg	rs397514392

Max Magnitude

3

ClinVar
Risk	rs397514392(T;T)
Alt	rs397514392(T;T)
Reference	Rs397514392(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686259C>T
CLNSRC	ARUP BTD
CLNACC	RCV000021971.1,