rs151071780

Orientation

plus

Stabilized

plus

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

Make rs151071780(C;G)

Make rs151071780(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15635641

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs151071780
dbSNP (classic)	rs151071780
ClinGen	rs151071780
ebi	rs151071780
HLI	rs151071780
Exac	rs151071780
Gnomad	rs151071780
Varsome	rs151071780
LitVar	rs151071780
Map	rs151071780
PheGenI	rs151071780
Biobank	rs151071780
1000 genomes	rs151071780
hgdp	rs151071780
ensembl	rs151071780
geneview	rs151071780
scholar	rs151071780
google	rs151071780
pharmgkb	rs151071780
gwascentral	rs151071780
openSNP	rs151071780
23andMe	rs151071780
SNPshot	rs151071780
SNPdbe	rs151071780
MSV3d	rs151071780
GWAS Ctlg	rs151071780

GMAF

0.0009183

Max Magnitude

3

ClinVar
Risk	rs151071780(G;G) rs151071780(T;T)
Alt	rs151071780(G;G) rs151071780(T;T)
Reference	Rs151071780(C;C)
Significance	Pathogenic
Disease	not specified Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	not specified Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15677148C>G; NC_000003.11:g.15677148C>T
CLNSRC	ARUP BTD
CLNACC	RCV000418472.1, RCV000021910.1,