rs397514436

Orientation

plus

Stabilized

plus

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

Make rs397514436(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15635571

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514436
dbSNP (classic)	rs397514436
ClinGen	rs397514436
ebi	rs397514436
HLI	rs397514436
Exac	rs397514436
Gnomad	rs397514436
Varsome	rs397514436
LitVar	rs397514436
Map	rs397514436
PheGenI	rs397514436
Biobank	rs397514436
1000 genomes	rs397514436
hgdp	rs397514436
ensembl	rs397514436
geneview	rs397514436
scholar	rs397514436
google	rs397514436
pharmgkb	rs397514436
gwascentral	rs397514436
openSNP	rs397514436
23andMe	rs397514436
SNPshot	rs397514436
SNPdbe	rs397514436
MSV3d	rs397514436
GWAS Ctlg	rs397514436

Max Magnitude

3

ClinVar
Risk	rs397514436(C;C)
Alt	rs397514436(C;C)
Reference	Rs397514436(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15677078G>C
CLNSRC	ARUP BTD
CLNACC	RCV000032017.1,