rs28934601

Orientation

plus

Stabilized

plus

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

Make rs28934601(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644611

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs28934601
dbSNP (classic)	rs28934601
ClinGen	rs28934601
ebi	rs28934601
HLI	rs28934601
Exac	rs28934601
Gnomad	rs28934601
Varsome	rs28934601
LitVar	rs28934601
Map	rs28934601
PheGenI	rs28934601
Biobank	rs28934601
1000 genomes	rs28934601
hgdp	rs28934601
ensembl	rs28934601
geneview	rs28934601
scholar	rs28934601
google	rs28934601
pharmgkb	rs28934601
gwascentral	rs28934601
openSNP	rs28934601
23andMe	rs28934601
SNPshot	rs28934601
SNPdbe	rs28934601
MSV3d	rs28934601
GWAS Ctlg	rs28934601

Max Magnitude

3

OMIM	609019
Desc	BIOTINIDASE DEFICIENCY
Variant	0006
Related	also

ClinVar
Risk	rs28934601(G;G)
Alt	rs28934601(G;G)
Reference	Rs28934601(A;A)
Significance	Pathogenic
Disease	Biotinidase deficiency not provided
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not provided
Reversed	0
HGVS	NC_000003.11:g.15686118A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001978.3, RCV000445043.1,