rs397514432

Orientation

plus

Stabilized

plus

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

Make rs397514432(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645483

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514432
dbSNP (classic)	rs397514432
ClinGen	rs397514432
ebi	rs397514432
HLI	rs397514432
Exac	rs397514432
Gnomad	rs397514432
Varsome	rs397514432
LitVar	rs397514432
Map	rs397514432
PheGenI	rs397514432
Biobank	rs397514432
1000 genomes	rs397514432
hgdp	rs397514432
ensembl	rs397514432
geneview	rs397514432
scholar	rs397514432
google	rs397514432
pharmgkb	rs397514432
gwascentral	rs397514432
openSNP	rs397514432
23andMe	rs397514432
SNPshot	rs397514432
SNPdbe	rs397514432
MSV3d	rs397514432
GWAS Ctlg	rs397514432

Max Magnitude

3

ClinVar
Risk	rs397514432(C;C)
Alt	rs397514432(C;C)
Reference	Rs397514432(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686990G>C
CLNSRC	ARUP BTD
CLNACC	RCV000022027.1,