rs397514425

Orientation

plus

Stabilized

plus

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

Make rs397514425(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645349

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514425
dbSNP (classic)	rs397514425
ClinGen	rs397514425
ebi	rs397514425
HLI	rs397514425
Exac	rs397514425
Gnomad	rs397514425
Varsome	rs397514425
LitVar	rs397514425
Map	rs397514425
PheGenI	rs397514425
Biobank	rs397514425
1000 genomes	rs397514425
hgdp	rs397514425
ensembl	rs397514425
geneview	rs397514425
scholar	rs397514425
google	rs397514425
pharmgkb	rs397514425
gwascentral	rs397514425
openSNP	rs397514425
23andMe	rs397514425
SNPshot	rs397514425
SNPdbe	rs397514425
MSV3d	rs397514425
GWAS Ctlg	rs397514425

Max Magnitude

3

ClinVar
Risk	rs397514425(T;T)
Alt	rs397514425(T;T)
Reference	Rs397514425(-;-)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686856dupT
CLNSRC	ClinVar
CLNACC	RCV000022020.1,