rs397514379

Orientation

plus

Stabilized

plus

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

Make rs397514379(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644510

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514379
dbSNP (classic)	rs397514379
ClinGen	rs397514379
ebi	rs397514379
HLI	rs397514379
Exac	rs397514379
Gnomad	rs397514379
Varsome	rs397514379
LitVar	rs397514379
Map	rs397514379
PheGenI	rs397514379
Biobank	rs397514379
1000 genomes	rs397514379
hgdp	rs397514379
ensembl	rs397514379
geneview	rs397514379
scholar	rs397514379
google	rs397514379
pharmgkb	rs397514379
gwascentral	rs397514379
openSNP	rs397514379
23andMe	rs397514379
SNPshot	rs397514379
SNPdbe	rs397514379
MSV3d	rs397514379
GWAS Ctlg	rs397514379

Max Magnitude

3

ClinVar
Risk	rs397514379(A;A) rs397514379(C;C)
Alt	rs397514379(A;A) rs397514379(C;C)
Reference	Rs397514379(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686017G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021956.1,