rs190386869

Orientation

plus

Stabilized

plus

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

Make rs190386869(C;G)

Make rs190386869(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644499

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs190386869
dbSNP (classic)	rs190386869
ClinGen	rs190386869
ebi	rs190386869
HLI	rs190386869
Exac	rs190386869
Gnomad	rs190386869
Varsome	rs190386869
LitVar	rs190386869
Map	rs190386869
PheGenI	rs190386869
Biobank	rs190386869
1000 genomes	rs190386869
hgdp	rs190386869
ensembl	rs190386869
geneview	rs190386869
scholar	rs190386869
google	rs190386869
pharmgkb	rs190386869
gwascentral	rs190386869
openSNP	rs190386869
23andMe	rs190386869
SNPshot	rs190386869
SNPdbe	rs190386869
MSV3d	rs190386869
GWAS Ctlg	rs190386869

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs190386869(G;G) rs190386869(T;T)
Alt	rs190386869(G;G) rs190386869(T;T)
Reference	Rs190386869(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686006C>T
CLNSRC	ARUP BTD
CLNACC	RCV000021953.1,