rs397514371

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a biotinidase deficiency mutation

Make rs397514371(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644440

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514371
dbSNP (classic)	rs397514371
ClinGen	rs397514371
ebi	rs397514371
HLI	rs397514371
Exac	rs397514371
Gnomad	rs397514371
Varsome	rs397514371
LitVar	rs397514371
Map	rs397514371
PheGenI	rs397514371
Biobank	rs397514371
1000 genomes	rs397514371
hgdp	rs397514371
ensembl	rs397514371
geneview	rs397514371
scholar	rs397514371
google	rs397514371
pharmgkb	rs397514371
gwascentral	rs397514371
openSNP	rs397514371
23andMe	rs397514371
SNPshot	rs397514371
SNPdbe	rs397514371
MSV3d	rs397514371
GWAS Ctlg	rs397514371

Max Magnitude

3

ClinVar
Risk	rs397514371(G;G)
Alt	rs397514371(G;G)
Reference	Rs397514371(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685947A>G
CLNSRC	ARUP BTD
CLNACC	RCV000021943.1,