rs397514422

Orientation

plus

Stabilized

plus

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

Make rs397514422(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645315

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514422
dbSNP (classic)	rs397514422
ClinGen	rs397514422
ebi	rs397514422
HLI	rs397514422
Exac	rs397514422
Gnomad	rs397514422
Varsome	rs397514422
LitVar	rs397514422
Map	rs397514422
PheGenI	rs397514422
Biobank	rs397514422
1000 genomes	rs397514422
hgdp	rs397514422
ensembl	rs397514422
geneview	rs397514422
scholar	rs397514422
google	rs397514422
pharmgkb	rs397514422
gwascentral	rs397514422
openSNP	rs397514422
23andMe	rs397514422
SNPshot	rs397514422
SNPdbe	rs397514422
MSV3d	rs397514422
GWAS Ctlg	rs397514422

Max Magnitude

3

ClinVar
Risk	rs397514422(C;C)
Alt	rs397514422(C;C)
Reference	Rs397514422(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency not provided
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not provided
Reversed	0
HGVS	NC_000003.11:g.15686822T>C
CLNSRC	ARUP BTD
CLNACC	RCV000022016.1, RCV000434827.1,