rs397514410

Orientation

plus

Stabilized

plus

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

Make rs397514410(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645109

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514410
dbSNP (classic)	rs397514410
ClinGen	rs397514410
ebi	rs397514410
HLI	rs397514410
Exac	rs397514410
Gnomad	rs397514410
Varsome	rs397514410
LitVar	rs397514410
Map	rs397514410
PheGenI	rs397514410
Biobank	rs397514410
1000 genomes	rs397514410
hgdp	rs397514410
ensembl	rs397514410
geneview	rs397514410
scholar	rs397514410
google	rs397514410
pharmgkb	rs397514410
gwascentral	rs397514410
openSNP	rs397514410
23andMe	rs397514410
SNPshot	rs397514410
SNPdbe	rs397514410
MSV3d	rs397514410
GWAS Ctlg	rs397514410

Max Magnitude

3

ClinVar
Risk	rs397514410(C;C)
Alt	rs397514410(C;C)
Reference	Rs397514410(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686616G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021996.1,