rs397514434

Orientation

plus

Stabilized

plus

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

Make rs397514434(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645014

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514434
dbSNP (classic)	rs397514434
ClinGen	rs397514434
ebi	rs397514434
HLI	rs397514434
Exac	rs397514434
Gnomad	rs397514434
Varsome	rs397514434
LitVar	rs397514434
Map	rs397514434
PheGenI	rs397514434
Biobank	rs397514434
1000 genomes	rs397514434
hgdp	rs397514434
ensembl	rs397514434
geneview	rs397514434
scholar	rs397514434
google	rs397514434
pharmgkb	rs397514434
gwascentral	rs397514434
openSNP	rs397514434
23andMe	rs397514434
SNPshot	rs397514434
SNPdbe	rs397514434
MSV3d	rs397514434
GWAS Ctlg	rs397514434

Max Magnitude

3

ClinVar
Risk	rs397514434(A;A)
Alt	rs397514434(A;A)
Reference	Rs397514434(G;G)
Significance	Other
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686521G>A
CLNSRC	ARUP BTD
CLNACC	RCV000032015.1,