rs397514417

Orientation

plus

Stabilized

plus

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

Make rs397514417(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645189

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514417
dbSNP (classic)	rs397514417
ClinGen	rs397514417
ebi	rs397514417
HLI	rs397514417
Exac	rs397514417
Gnomad	rs397514417
Varsome	rs397514417
LitVar	rs397514417
Map	rs397514417
PheGenI	rs397514417
Biobank	rs397514417
1000 genomes	rs397514417
hgdp	rs397514417
ensembl	rs397514417
geneview	rs397514417
scholar	rs397514417
google	rs397514417
pharmgkb	rs397514417
gwascentral	rs397514417
openSNP	rs397514417
23andMe	rs397514417
SNPshot	rs397514417
SNPdbe	rs397514417
MSV3d	rs397514417
GWAS Ctlg	rs397514417

Max Magnitude

3

ClinVar
Risk	rs397514417(A;A)
Alt	rs397514417(A;A)
Reference	Rs397514417(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686696G>A
CLNSRC	ARUP BTD
CLNACC	RCV000022006.1,