rs397514348

Orientation

plus

Stabilized

plus

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

Make rs397514348(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15635657

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514348
dbSNP (classic)	rs397514348
ClinGen	rs397514348
ebi	rs397514348
HLI	rs397514348
Exac	rs397514348
Gnomad	rs397514348
Varsome	rs397514348
LitVar	rs397514348
Map	rs397514348
PheGenI	rs397514348
Biobank	rs397514348
1000 genomes	rs397514348
hgdp	rs397514348
ensembl	rs397514348
geneview	rs397514348
scholar	rs397514348
google	rs397514348
pharmgkb	rs397514348
gwascentral	rs397514348
openSNP	rs397514348
23andMe	rs397514348
SNPshot	rs397514348
SNPdbe	rs397514348
MSV3d	rs397514348
GWAS Ctlg	rs397514348

Max Magnitude

3

ClinVar
Risk	rs397514348(G;G)
Alt	rs397514348(G;G)
Reference	Rs397514348(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15677164A>G
CLNSRC	ARUP BTD
CLNACC	RCV000021911.1,