rs397514413

Orientation

plus

Stabilized

plus

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

Make rs397514413(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645124

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514413
dbSNP (classic)	rs397514413
ClinGen	rs397514413
ebi	rs397514413
HLI	rs397514413
Exac	rs397514413
Gnomad	rs397514413
Varsome	rs397514413
LitVar	rs397514413
Map	rs397514413
PheGenI	rs397514413
Biobank	rs397514413
1000 genomes	rs397514413
hgdp	rs397514413
ensembl	rs397514413
geneview	rs397514413
scholar	rs397514413
google	rs397514413
pharmgkb	rs397514413
gwascentral	rs397514413
openSNP	rs397514413
23andMe	rs397514413
SNPshot	rs397514413
SNPdbe	rs397514413
MSV3d	rs397514413
GWAS Ctlg	rs397514413

Max Magnitude

3

ClinVar
Risk	rs397514413(C;C)
Alt	rs397514413(C;C)
Reference	Rs397514413(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686631G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021999.1,