rs1057516812

Orientation

plus

Stabilized

plus

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

Make rs1057516812(-;A)

Make rs1057516812(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15635486

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs1057516812
dbSNP (classic)	rs1057516812
ClinGen	rs1057516812
ebi	rs1057516812
HLI	rs1057516812
Exac	rs1057516812
Gnomad	rs1057516812
Varsome	rs1057516812
LitVar	rs1057516812
Map	rs1057516812
PheGenI	rs1057516812
Biobank	rs1057516812
1000 genomes	rs1057516812
hgdp	rs1057516812
ensembl	rs1057516812
geneview	rs1057516812
scholar	rs1057516812
google	rs1057516812
pharmgkb	rs1057516812
gwascentral	rs1057516812
openSNP	rs1057516812
23andMe	rs1057516812
SNPshot	rs1057516812
SNPdbe	rs1057516812
MSV3d	rs1057516812
GWAS Ctlg	rs1057516812

Max Magnitude

0

ClinVar
Risk	rs1057516812(A;A)
Alt	rs1057516812(A;A)
Reference	Rs1057516812(-;-)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15676993dupA
CLNSRC
CLNACC	RCV000411926.1,