rs397514373

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CGT)	3	Carrier of a biotinidase deficiency mutation
(CGT;CGT)	0	common in clinvar
(GTC;GTC)	0	common in clinvar
(I;I)	0	common genotype

Make rs397514373(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644450

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514373
dbSNP (classic)	rs397514373
ClinGen	rs397514373
ebi	rs397514373
HLI	rs397514373
Exac	rs397514373
Gnomad	rs397514373
Varsome	rs397514373
LitVar	rs397514373
Map	rs397514373
PheGenI	rs397514373
Biobank	rs397514373
1000 genomes	rs397514373
hgdp	rs397514373
ensembl	rs397514373
geneview	rs397514373
scholar	rs397514373
google	rs397514373
pharmgkb	rs397514373
gwascentral	rs397514373
openSNP	rs397514373
23andMe	rs397514373
SNPshot	rs397514373
SNPdbe	rs397514373
MSV3d	rs397514373
GWAS Ctlg	rs397514373

Max Magnitude

3

ClinVar
Risk	rs397514373(-;-)
Alt	rs397514373(-;-)
Reference	Rs397514373(GTC;GTC)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685957_15685959delCGT
CLNSRC	ClinVar
CLNACC	RCV000021945.1,