rs397514352

Orientation

plus

Stabilized

plus

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

Make rs397514352(C;C)

Make rs397514352(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641932

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514352
dbSNP (classic)	rs397514352
ClinGen	rs397514352
ebi	rs397514352
HLI	rs397514352
Exac	rs397514352
Gnomad	rs397514352
Varsome	rs397514352
LitVar	rs397514352
Map	rs397514352
PheGenI	rs397514352
Biobank	rs397514352
1000 genomes	rs397514352
hgdp	rs397514352
ensembl	rs397514352
geneview	rs397514352
scholar	rs397514352
google	rs397514352
pharmgkb	rs397514352
gwascentral	rs397514352
openSNP	rs397514352
23andMe	rs397514352
SNPshot	rs397514352
SNPdbe	rs397514352
MSV3d	rs397514352
GWAS Ctlg	rs397514352

Max Magnitude

0

ClinVar
Risk	rs397514352(A;A) rs397514352(C;C)
Alt	rs397514352(A;A) rs397514352(C;C)
Reference	Rs397514352(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683439G>A; NC_000003.11:g.15683439G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021917.1, RCV000021916.1,