rs397514426

Orientation

plus

Stabilized

plus

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

Make rs397514426(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645367

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514426
dbSNP (classic)	rs397514426
ClinGen	rs397514426
ebi	rs397514426
HLI	rs397514426
Exac	rs397514426
Gnomad	rs397514426
Varsome	rs397514426
LitVar	rs397514426
Map	rs397514426
PheGenI	rs397514426
Biobank	rs397514426
1000 genomes	rs397514426
hgdp	rs397514426
ensembl	rs397514426
geneview	rs397514426
scholar	rs397514426
google	rs397514426
pharmgkb	rs397514426
gwascentral	rs397514426
openSNP	rs397514426
23andMe	rs397514426
SNPshot	rs397514426
SNPdbe	rs397514426
MSV3d	rs397514426
GWAS Ctlg	rs397514426

Max Magnitude

3

ClinVar
Risk	rs397514426(A;A)
Alt	rs397514426(A;A)
Reference	Rs397514426(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686874T>A
CLNSRC	ARUP BTD
CLNACC	RCV000022021.1,