rs146015592

Orientation

plus

Stabilized

plus

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

Make rs146015592(A;A)

Reference

GRCh38 38.1/142

Chromosome

3

Position

15644326

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs146015592
dbSNP (classic)	rs146015592
ClinGen	rs146015592
ebi	rs146015592
HLI	rs146015592
Exac	rs146015592
Gnomad	rs146015592
Varsome	rs146015592
LitVar	rs146015592
Map	rs146015592
PheGenI	rs146015592
Biobank	rs146015592
1000 genomes	rs146015592
hgdp	rs146015592
ensembl	rs146015592
geneview	rs146015592
scholar	rs146015592
google	rs146015592
pharmgkb	rs146015592
gwascentral	rs146015592
openSNP	rs146015592
23andMe	rs146015592
SNPshot	rs146015592
SNPdbe	rs146015592
MSV3d	rs146015592
GWAS Ctlg	rs146015592

Max Magnitude

3

ClinVar
Risk	rs146015592(A;A)
Alt	rs146015592(A;A)
Reference	Rs146015592(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency not provided
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not provided
Reversed	0
HGVS	NC_000003.11:g.15685833G>A
CLNSRC	HGMD
CLNACC	RCV000021904.2, RCV000021933.1, RCV000032009.1, RCV000078072.4,