rs397514381

Orientation

plus

Stabilized

plus

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

Make rs397514381(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644565

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514381
dbSNP (classic)	rs397514381
ClinGen	rs397514381
ebi	rs397514381
HLI	rs397514381
Exac	rs397514381
Gnomad	rs397514381
Varsome	rs397514381
LitVar	rs397514381
Map	rs397514381
PheGenI	rs397514381
Biobank	rs397514381
1000 genomes	rs397514381
hgdp	rs397514381
ensembl	rs397514381
geneview	rs397514381
scholar	rs397514381
google	rs397514381
pharmgkb	rs397514381
gwascentral	rs397514381
openSNP	rs397514381
23andMe	rs397514381
SNPshot	rs397514381
SNPdbe	rs397514381
MSV3d	rs397514381
GWAS Ctlg	rs397514381

Max Magnitude

3

ClinVar
Risk	rs397514381(A;A)
Alt	rs397514381(A;A)
Reference	Rs397514381(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686072G>A
CLNSRC	ARUP BTD
CLNACC	RCV000021958.1,