rs146136265

Orientation

plus

Stabilized

plus

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

Make rs146136265(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645485

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs146136265
dbSNP (classic)	rs146136265
ClinGen	rs146136265
ebi	rs146136265
HLI	rs146136265
Exac	rs146136265
Gnomad	rs146136265
Varsome	rs146136265
LitVar	rs146136265
Map	rs146136265
PheGenI	rs146136265
Biobank	rs146136265
1000 genomes	rs146136265
hgdp	rs146136265
ensembl	rs146136265
geneview	rs146136265
scholar	rs146136265
google	rs146136265
pharmgkb	rs146136265
gwascentral	rs146136265
openSNP	rs146136265
23andMe	rs146136265
SNPshot	rs146136265
SNPdbe	rs146136265
MSV3d	rs146136265
GWAS Ctlg	rs146136265

Max Magnitude

3

ClinVar
Risk	rs146136265(A;A)
Alt	rs146136265(A;A)
Reference	Rs146136265(C;C)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency not specified
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not specified
Reversed	0
HGVS	NC_000003.11:g.15686992C>A
CLNSRC	ARUP BTD
CLNACC	RCV000022028.1, RCV000078071.4,