rs397514351

Orientation

plus

Stabilized

plus

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

Make rs397514351(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641908

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514351
dbSNP (classic)	rs397514351
ClinGen	rs397514351
ebi	rs397514351
HLI	rs397514351
Exac	rs397514351
Gnomad	rs397514351
Varsome	rs397514351
LitVar	rs397514351
Map	rs397514351
PheGenI	rs397514351
Biobank	rs397514351
1000 genomes	rs397514351
hgdp	rs397514351
ensembl	rs397514351
geneview	rs397514351
scholar	rs397514351
google	rs397514351
pharmgkb	rs397514351
gwascentral	rs397514351
openSNP	rs397514351
23andMe	rs397514351
SNPshot	rs397514351
SNPdbe	rs397514351
MSV3d	rs397514351
GWAS Ctlg	rs397514351

Max Magnitude

3

ClinVar
Risk	rs397514351(T;T)
Alt	rs397514351(T;T)
Reference	Rs397514351(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683415G>T
CLNSRC	ARUP BTD
CLNACC	RCV000021914.1,