rs397514383

Orientation

plus

Stabilized

plus

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

Make rs397514383(C;T)

Make rs397514383(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644613

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514383
dbSNP (classic)	rs397514383
ClinGen	rs397514383
ebi	rs397514383
HLI	rs397514383
Exac	rs397514383
Gnomad	rs397514383
Varsome	rs397514383
LitVar	rs397514383
Map	rs397514383
PheGenI	rs397514383
Biobank	rs397514383
1000 genomes	rs397514383
hgdp	rs397514383
ensembl	rs397514383
geneview	rs397514383
scholar	rs397514383
google	rs397514383
pharmgkb	rs397514383
gwascentral	rs397514383
openSNP	rs397514383
23andMe	rs397514383
SNPshot	rs397514383
SNPdbe	rs397514383
MSV3d	rs397514383
GWAS Ctlg	rs397514383

Max Magnitude

0

ClinVar
Risk	rs397514383(T;T)
Alt	rs397514383(T;T)
Reference	Rs397514383(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686120C>T
CLNSRC	ARUP BTD
CLNACC	RCV000021961.1,