rs397514406

Orientation

plus

Stabilized

plus

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

Make rs397514406(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645070

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514406
dbSNP (classic)	rs397514406
ClinGen	rs397514406
ebi	rs397514406
HLI	rs397514406
Exac	rs397514406
Gnomad	rs397514406
Varsome	rs397514406
LitVar	rs397514406
Map	rs397514406
PheGenI	rs397514406
Biobank	rs397514406
1000 genomes	rs397514406
hgdp	rs397514406
ensembl	rs397514406
geneview	rs397514406
scholar	rs397514406
google	rs397514406
pharmgkb	rs397514406
gwascentral	rs397514406
openSNP	rs397514406
23andMe	rs397514406
SNPshot	rs397514406
SNPdbe	rs397514406
MSV3d	rs397514406
GWAS Ctlg	rs397514406

Max Magnitude

3

ClinVar
Risk	rs397514406(C;C)
Alt	rs397514406(C;C)
Reference	Rs397514406(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686577T>C
CLNSRC	ARUP BTD
CLNACC	RCV000021991.1,