rs1057517114

Orientation

plus

Stabilized

plus

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

Make rs1057517114(-;-)

Make rs1057517114(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15601895

Gene	BTD, HACL1

is a	snp
is	mentioned by
dbSNP	rs1057517114
dbSNP (classic)	rs1057517114
ClinGen	rs1057517114
ebi	rs1057517114
HLI	rs1057517114
Exac	rs1057517114
Gnomad	rs1057517114
Varsome	rs1057517114
LitVar	rs1057517114
Map	rs1057517114
PheGenI	rs1057517114
Biobank	rs1057517114
1000 genomes	rs1057517114
hgdp	rs1057517114
ensembl	rs1057517114
geneview	rs1057517114
scholar	rs1057517114
google	rs1057517114
pharmgkb	rs1057517114
gwascentral	rs1057517114
openSNP	rs1057517114
23andMe	rs1057517114
SNPshot	rs1057517114
SNPdbe	rs1057517114
MSV3d	rs1057517114
GWAS Ctlg	rs1057517114

Max Magnitude

0

ClinVar
Risk	rs1057517114(-;-)
Alt	rs1057517114(-;-)
Reference	Rs1057517114(G;G)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	HACL1 BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15643402delG
CLNSRC
CLNACC	RCV000412426.1,