rs1057516440

Orientation

plus

Stabilized

plus

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

Make rs1057516440(A;A)

Make rs1057516440(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15601895

Gene	BTD, HACL1

is a	snp
is	mentioned by
dbSNP	rs1057516440
dbSNP (classic)	rs1057516440
ClinGen	rs1057516440
ebi	rs1057516440
HLI	rs1057516440
Exac	rs1057516440
Gnomad	rs1057516440
Varsome	rs1057516440
LitVar	rs1057516440
Map	rs1057516440
PheGenI	rs1057516440
Biobank	rs1057516440
1000 genomes	rs1057516440
hgdp	rs1057516440
ensembl	rs1057516440
geneview	rs1057516440
scholar	rs1057516440
google	rs1057516440
pharmgkb	rs1057516440
gwascentral	rs1057516440
openSNP	rs1057516440
23andMe	rs1057516440
SNPshot	rs1057516440
SNPdbe	rs1057516440
MSV3d	rs1057516440
GWAS Ctlg	rs1057516440

Max Magnitude

0

ClinVar
Risk	rs1057516440(A;A) rs1057516440(C;C) rs1057516440(T;T)
Alt	rs1057516440(A;A) rs1057516440(C;C) rs1057516440(T;T)
Reference	Rs1057516440(G;G)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	HACL1 BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15643402G>A; NC_000003.11:g.15643402G>C; NC_000003.11:g.15643402G>T
CLNSRC
CLNACC	RCV000409752.1, RCV000410337.1, RCV000411884.1,