rs104893692

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs104893692(A;C)

Make rs104893692(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645322

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs104893692
dbSNP (classic)	rs104893692
ClinGen	rs104893692
ebi	rs104893692
HLI	rs104893692
Exac	rs104893692
Gnomad	rs104893692
Varsome	rs104893692
LitVar	rs104893692
Map	rs104893692
PheGenI	rs104893692
Biobank	rs104893692
1000 genomes	rs104893692
hgdp	rs104893692
ensembl	rs104893692
geneview	rs104893692
scholar	rs104893692
google	rs104893692
pharmgkb	rs104893692
gwascentral	rs104893692
openSNP	rs104893692
23andMe	rs104893692
SNPshot	rs104893692
SNPdbe	rs104893692
MSV3d	rs104893692
GWAS Ctlg	rs104893692

Max Magnitude

0

OMIM	609019
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893692(C;C)
Alt	rs104893692(C;C)
Reference	Rs104893692(A;A)
Significance	Other
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686829A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001980.2,