rs146600671

Orientation

plus

Stabilized

plus

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

Make rs146600671(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645225

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs146600671
dbSNP (classic)	rs146600671
ClinGen	rs146600671
ebi	rs146600671
HLI	rs146600671
Exac	rs146600671
Gnomad	rs146600671
Varsome	rs146600671
LitVar	rs146600671
Map	rs146600671
PheGenI	rs146600671
Biobank	rs146600671
1000 genomes	rs146600671
hgdp	rs146600671
ensembl	rs146600671
geneview	rs146600671
scholar	rs146600671
google	rs146600671
pharmgkb	rs146600671
gwascentral	rs146600671
openSNP	rs146600671
23andMe	rs146600671
SNPshot	rs146600671
SNPdbe	rs146600671
MSV3d	rs146600671
GWAS Ctlg	rs146600671

Max Magnitude

3

ClinVar
Risk	rs146600671(A;A)
Alt	rs146600671(A;A)
Reference	Rs146600671(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686732G>A
CLNSRC	ARUP BTD
CLNACC	RCV000022010.1,