rs397514389

Orientation

plus

Stabilized

plus

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

Make rs397514389(C;C)

Make rs397514389(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644689

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514389
dbSNP (classic)	rs397514389
ClinGen	rs397514389
ebi	rs397514389
HLI	rs397514389
Exac	rs397514389
Gnomad	rs397514389
Varsome	rs397514389
LitVar	rs397514389
Map	rs397514389
PheGenI	rs397514389
Biobank	rs397514389
1000 genomes	rs397514389
hgdp	rs397514389
ensembl	rs397514389
geneview	rs397514389
scholar	rs397514389
google	rs397514389
pharmgkb	rs397514389
gwascentral	rs397514389
openSNP	rs397514389
23andMe	rs397514389
SNPshot	rs397514389
SNPdbe	rs397514389
MSV3d	rs397514389
GWAS Ctlg	rs397514389

Max Magnitude

0

ClinVar
Risk	rs397514389(C;C)
Alt	rs397514389(C;C)
Reference	Rs397514389(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686196T>C
CLNSRC	ARUP BTD
CLNACC	RCV000021967.1,