rs397514431

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs397514431(A;G)

Make rs397514431(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645475

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514431
dbSNP (classic)	rs397514431
ClinGen	rs397514431
ebi	rs397514431
HLI	rs397514431
Exac	rs397514431
Gnomad	rs397514431
Varsome	rs397514431
LitVar	rs397514431
Map	rs397514431
PheGenI	rs397514431
Biobank	rs397514431
1000 genomes	rs397514431
hgdp	rs397514431
ensembl	rs397514431
geneview	rs397514431
scholar	rs397514431
google	rs397514431
pharmgkb	rs397514431
gwascentral	rs397514431
openSNP	rs397514431
23andMe	rs397514431
SNPshot	rs397514431
SNPdbe	rs397514431
MSV3d	rs397514431
GWAS Ctlg	rs397514431

Max Magnitude

0

ClinVar
Risk	rs397514431(G;G)
Alt	rs397514431(G;G)
Reference	Rs397514431(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686982A>G
CLNSRC	ARUP BTD
CLNACC	RCV000022026.1,