rs1057517256

Orientation

plus

Stabilized

plus

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

Make rs1057517256(-;TC)

Make rs1057517256(TC;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15645027

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs1057517256
dbSNP (classic)	rs1057517256
ClinGen	rs1057517256
ebi	rs1057517256
HLI	rs1057517256
Exac	rs1057517256
Gnomad	rs1057517256
Varsome	rs1057517256
LitVar	rs1057517256
Map	rs1057517256
PheGenI	rs1057517256
Biobank	rs1057517256
1000 genomes	rs1057517256
hgdp	rs1057517256
ensembl	rs1057517256
geneview	rs1057517256
scholar	rs1057517256
google	rs1057517256
pharmgkb	rs1057517256
gwascentral	rs1057517256
openSNP	rs1057517256
23andMe	rs1057517256
SNPshot	rs1057517256
SNPdbe	rs1057517256
MSV3d	rs1057517256
GWAS Ctlg	rs1057517256

Max Magnitude

0

ClinVar
Risk	rs1057517256(CT;CT)
Alt	rs1057517256(CT;CT)
Reference	Rs1057517256(-;-)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686533_15686534dupTC
CLNSRC
CLNACC	RCV000410764.1,