rs397514412

Orientation

plus

Stabilized

plus

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

Make rs397514412(C;C)

Make rs397514412(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645123

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514412
dbSNP (classic)	rs397514412
ClinGen	rs397514412
ebi	rs397514412
HLI	rs397514412
Exac	rs397514412
Gnomad	rs397514412
Varsome	rs397514412
LitVar	rs397514412
Map	rs397514412
PheGenI	rs397514412
Biobank	rs397514412
1000 genomes	rs397514412
hgdp	rs397514412
ensembl	rs397514412
geneview	rs397514412
scholar	rs397514412
google	rs397514412
pharmgkb	rs397514412
gwascentral	rs397514412
openSNP	rs397514412
23andMe	rs397514412
SNPshot	rs397514412
SNPdbe	rs397514412
MSV3d	rs397514412
GWAS Ctlg	rs397514412

Max Magnitude

0

ClinVar
Risk	rs397514412(C;C)
Alt	rs397514412(C;C)
Reference	Rs397514412(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686630T>C
CLNSRC	ARUP BTD
CLNACC	RCV000021998.1,