rs397514437

Orientation

plus

Stabilized

plus

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

Make rs397514437(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644374

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514437
dbSNP (classic)	rs397514437
ClinGen	rs397514437
ebi	rs397514437
HLI	rs397514437
Exac	rs397514437
Gnomad	rs397514437
Varsome	rs397514437
LitVar	rs397514437
Map	rs397514437
PheGenI	rs397514437
Biobank	rs397514437
1000 genomes	rs397514437
hgdp	rs397514437
ensembl	rs397514437
geneview	rs397514437
scholar	rs397514437
google	rs397514437
pharmgkb	rs397514437
gwascentral	rs397514437
openSNP	rs397514437
23andMe	rs397514437
SNPshot	rs397514437
SNPdbe	rs397514437
MSV3d	rs397514437
GWAS Ctlg	rs397514437

Max Magnitude

3

ClinVar
Risk	rs397514437(G;G)
Alt	rs397514437(G;G)
Reference	Rs397514437(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685881T>G
CLNSRC	ARUP BTD
CLNACC	RCV000032018.1,