rs1057516223

Orientation

plus

Stabilized

plus

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

Make rs1057516223(-;CATT)

Make rs1057516223(CATT;CATT)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15641973

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs1057516223
dbSNP (classic)	rs1057516223
ClinGen	rs1057516223
ebi	rs1057516223
HLI	rs1057516223
Exac	rs1057516223
Gnomad	rs1057516223
Varsome	rs1057516223
LitVar	rs1057516223
Map	rs1057516223
PheGenI	rs1057516223
Biobank	rs1057516223
1000 genomes	rs1057516223
hgdp	rs1057516223
ensembl	rs1057516223
geneview	rs1057516223
scholar	rs1057516223
google	rs1057516223
pharmgkb	rs1057516223
gwascentral	rs1057516223
openSNP	rs1057516223
23andMe	rs1057516223
SNPshot	rs1057516223
SNPdbe	rs1057516223
MSV3d	rs1057516223
GWAS Ctlg	rs1057516223

Max Magnitude

0

ClinVar
Risk	rs1057516223(CATT;CATT)
Alt	rs1057516223(CATT;CATT)
Reference	Rs1057516223(-;-)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683477_15683480dupCATT
CLNSRC
CLNACC	RCV000410710.1,