rs397514424

Orientation

plus

Stabilized

plus

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

Make rs397514424(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645319

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514424
dbSNP (classic)	rs397514424
ClinGen	rs397514424
ebi	rs397514424
HLI	rs397514424
Exac	rs397514424
Gnomad	rs397514424
Varsome	rs397514424
LitVar	rs397514424
Map	rs397514424
PheGenI	rs397514424
Biobank	rs397514424
1000 genomes	rs397514424
hgdp	rs397514424
ensembl	rs397514424
geneview	rs397514424
scholar	rs397514424
google	rs397514424
pharmgkb	rs397514424
gwascentral	rs397514424
openSNP	rs397514424
23andMe	rs397514424
SNPshot	rs397514424
SNPdbe	rs397514424
MSV3d	rs397514424
GWAS Ctlg	rs397514424

Max Magnitude

3

ClinVar
Risk	rs397514424(A;A)
Alt	rs397514424(A;A)
Reference	Rs397514424(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686826G>A
CLNSRC	ARUP BTD
CLNACC	RCV000022018.1,