rs374681173

Orientation

plus

Stabilized

plus

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

Make rs374681173(A;G)

Make rs374681173(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15642052

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs374681173
dbSNP (classic)	rs374681173
ClinGen	rs374681173
ebi	rs374681173
HLI	rs374681173
Exac	rs374681173
Gnomad	rs374681173
Varsome	rs374681173
LitVar	rs374681173
Map	rs374681173
PheGenI	rs374681173
Biobank	rs374681173
1000 genomes	rs374681173
hgdp	rs374681173
ensembl	rs374681173
geneview	rs374681173
scholar	rs374681173
google	rs374681173
pharmgkb	rs374681173
gwascentral	rs374681173
openSNP	rs374681173
23andMe	rs374681173
SNPshot	rs374681173
SNPdbe	rs374681173
MSV3d	rs374681173
GWAS Ctlg	rs374681173

Max Magnitude

3

ClinVar
Risk	rs374681173(C;C) rs374681173(G;G)
Alt	rs374681173(C;C) rs374681173(G;G)
Reference	Rs374681173(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683559A>C
CLNSRC	ARUP BTD
CLNACC	RCV000021927.1,