rs397514440

Orientation

plus

Stabilized

plus

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

Make rs397514440(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645250

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514440
dbSNP (classic)	rs397514440
ClinGen	rs397514440
ebi	rs397514440
HLI	rs397514440
Exac	rs397514440
Gnomad	rs397514440
Varsome	rs397514440
LitVar	rs397514440
Map	rs397514440
PheGenI	rs397514440
Biobank	rs397514440
1000 genomes	rs397514440
hgdp	rs397514440
ensembl	rs397514440
geneview	rs397514440
scholar	rs397514440
google	rs397514440
pharmgkb	rs397514440
gwascentral	rs397514440
openSNP	rs397514440
23andMe	rs397514440
SNPshot	rs397514440
SNPdbe	rs397514440
MSV3d	rs397514440
GWAS Ctlg	rs397514440

Max Magnitude

3

ClinVar
Risk	rs397514440(G;G)
Alt	rs397514440(G;G)
Reference	Rs397514440(-;-)
Significance	Other
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686757dupG
CLNSRC	ClinVar
CLNACC	RCV000032023.1,