rs397514365

Orientation

plus

Stabilized

plus

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

Make rs397514365(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644346

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514365
dbSNP (classic)	rs397514365
ClinGen	rs397514365
ebi	rs397514365
HLI	rs397514365
Exac	rs397514365
Gnomad	rs397514365
Varsome	rs397514365
LitVar	rs397514365
Map	rs397514365
PheGenI	rs397514365
Biobank	rs397514365
1000 genomes	rs397514365
hgdp	rs397514365
ensembl	rs397514365
geneview	rs397514365
scholar	rs397514365
google	rs397514365
pharmgkb	rs397514365
gwascentral	rs397514365
openSNP	rs397514365
23andMe	rs397514365
SNPshot	rs397514365
SNPdbe	rs397514365
MSV3d	rs397514365
GWAS Ctlg	rs397514365

Max Magnitude

3

ClinVar
Risk	rs397514365(-;-)
Alt	rs397514365(-;-)
Reference	Rs397514365(AG;AG)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685853_15685854delAG
CLNSRC	ClinVar
CLNACC	RCV000021935.1,