rs397514384

Orientation

plus

Stabilized

plus

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

Make rs397514384(C;C)

Make rs397514384(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644620

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514384
dbSNP (classic)	rs397514384
ClinGen	rs397514384
ebi	rs397514384
HLI	rs397514384
Exac	rs397514384
Gnomad	rs397514384
Varsome	rs397514384
LitVar	rs397514384
Map	rs397514384
PheGenI	rs397514384
Biobank	rs397514384
1000 genomes	rs397514384
hgdp	rs397514384
ensembl	rs397514384
geneview	rs397514384
scholar	rs397514384
google	rs397514384
pharmgkb	rs397514384
gwascentral	rs397514384
openSNP	rs397514384
23andMe	rs397514384
SNPshot	rs397514384
SNPdbe	rs397514384
MSV3d	rs397514384
GWAS Ctlg	rs397514384

Max Magnitude

0

ClinVar
Risk	rs397514384(C;C)
Alt	rs397514384(C;C)
Reference	Rs397514384(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686127T>C
CLNSRC	ARUP BTD
CLNACC	RCV000021962.1,