rs104893687

Orientation

plus

Stabilized

plus

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

Make rs104893687(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15635614

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs104893687
dbSNP (classic)	rs104893687
ClinGen	rs104893687
ebi	rs104893687
HLI	rs104893687
Exac	rs104893687
Gnomad	rs104893687
Varsome	rs104893687
LitVar	rs104893687
Map	rs104893687
PheGenI	rs104893687
Biobank	rs104893687
1000 genomes	rs104893687
hgdp	rs104893687
ensembl	rs104893687
geneview	rs104893687
scholar	rs104893687
google	rs104893687
pharmgkb	rs104893687
gwascentral	rs104893687
openSNP	rs104893687
23andMe	rs104893687
SNPshot	rs104893687
SNPdbe	rs104893687
MSV3d	rs104893687
GWAS Ctlg	rs104893687

Max Magnitude

0

OMIM	609019
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893687(T;T)
Alt	rs104893687(T;T)
Reference	Rs104893687(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15677121C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001982.1, RCV000021903.1, RCV000032009.1,