rs397514334

Orientation

plus

Stabilized

plus

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

Make rs397514334(C;C)

Make rs397514334(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644721

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514334
dbSNP (classic)	rs397514334
ClinGen	rs397514334
ebi	rs397514334
HLI	rs397514334
Exac	rs397514334
Gnomad	rs397514334
Varsome	rs397514334
LitVar	rs397514334
Map	rs397514334
PheGenI	rs397514334
Biobank	rs397514334
1000 genomes	rs397514334
hgdp	rs397514334
ensembl	rs397514334
geneview	rs397514334
scholar	rs397514334
google	rs397514334
pharmgkb	rs397514334
gwascentral	rs397514334
openSNP	rs397514334
23andMe	rs397514334
SNPshot	rs397514334
SNPdbe	rs397514334
MSV3d	rs397514334
GWAS Ctlg	rs397514334

Max Magnitude

0

ClinVar
Risk	rs397514334(C;C)
Alt	rs397514334(C;C)
Reference	Rs397514334(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686228G>C
CLNSRC	ARUP BTD
CLNACC	RCV000021889.1,