rs397514400

Orientation

plus

Stabilized

plus

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

Make rs397514400(C;T)

Make rs397514400(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644962

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514400
dbSNP (classic)	rs397514400
ClinGen	rs397514400
ebi	rs397514400
HLI	rs397514400
Exac	rs397514400
Gnomad	rs397514400
Varsome	rs397514400
LitVar	rs397514400
Map	rs397514400
PheGenI	rs397514400
Biobank	rs397514400
1000 genomes	rs397514400
hgdp	rs397514400
ensembl	rs397514400
geneview	rs397514400
scholar	rs397514400
google	rs397514400
pharmgkb	rs397514400
gwascentral	rs397514400
openSNP	rs397514400
23andMe	rs397514400
SNPshot	rs397514400
SNPdbe	rs397514400
MSV3d	rs397514400
GWAS Ctlg	rs397514400

Max Magnitude

0

ClinVar
Risk	rs397514400(T;T)
Alt	rs397514400(T;T)
Reference	Rs397514400(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686469C>T
CLNSRC	ARUP BTD
CLNACC	RCV000021982.1,