rs397514378

Orientation

plus

Stabilized

plus

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

Make rs397514378(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644508

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514378
dbSNP (classic)	rs397514378
ClinGen	rs397514378
ebi	rs397514378
HLI	rs397514378
Exac	rs397514378
Gnomad	rs397514378
Varsome	rs397514378
LitVar	rs397514378
Map	rs397514378
PheGenI	rs397514378
Biobank	rs397514378
1000 genomes	rs397514378
hgdp	rs397514378
ensembl	rs397514378
geneview	rs397514378
scholar	rs397514378
google	rs397514378
pharmgkb	rs397514378
gwascentral	rs397514378
openSNP	rs397514378
23andMe	rs397514378
SNPshot	rs397514378
SNPdbe	rs397514378
MSV3d	rs397514378
GWAS Ctlg	rs397514378

Max Magnitude

3

ClinVar
Risk	rs397514378(C;C)
Alt	rs397514378(C;C)
Reference	Rs397514378(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686015G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021955.1,