rs397514353

Orientation

plus

Stabilized

plus

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

Make rs397514353(A;G)

Make rs397514353(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641954

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514353
dbSNP (classic)	rs397514353
ClinGen	rs397514353
ebi	rs397514353
HLI	rs397514353
Exac	rs397514353
Gnomad	rs397514353
Varsome	rs397514353
LitVar	rs397514353
Map	rs397514353
PheGenI	rs397514353
Biobank	rs397514353
1000 genomes	rs397514353
hgdp	rs397514353
ensembl	rs397514353
geneview	rs397514353
scholar	rs397514353
google	rs397514353
pharmgkb	rs397514353
gwascentral	rs397514353
openSNP	rs397514353
23andMe	rs397514353
SNPshot	rs397514353
SNPdbe	rs397514353
MSV3d	rs397514353
GWAS Ctlg	rs397514353

Max Magnitude

0

ClinVar
Risk	rs397514353(G;G)
Alt	rs397514353(G;G)
Reference	Rs397514353(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683461A>G
CLNSRC	ARUP BTD
CLNACC	RCV000021919.1,