rs200337373

Orientation

plus

Stabilized

plus

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

Make rs200337373(A;A)

Make rs200337373(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644520

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs200337373
dbSNP (classic)	rs200337373
ClinGen	rs200337373
ebi	rs200337373
HLI	rs200337373
Exac	rs200337373
Gnomad	rs200337373
Varsome	rs200337373
LitVar	rs200337373
Map	rs200337373
PheGenI	rs200337373
Biobank	rs200337373
1000 genomes	rs200337373
hgdp	rs200337373
ensembl	rs200337373
geneview	rs200337373
scholar	rs200337373
google	rs200337373
pharmgkb	rs200337373
gwascentral	rs200337373
openSNP	rs200337373
23andMe	rs200337373
SNPshot	rs200337373
SNPdbe	rs200337373
MSV3d	rs200337373
GWAS Ctlg	rs200337373

Max Magnitude

3

ClinVar
Risk	rs200337373(A;A) rs200337373(C;C)
Alt	rs200337373(A;A) rs200337373(C;C)
Reference	Rs200337373(G;G)
Significance	Pathogenic
Disease	not provided Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	not provided Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686027G>A; NC_000003.11:g.15686027G>C
CLNSRC	ARUP BTD
CLNACC	RCV000420327.1, RCV000022031.1,