rs143058480

Orientation

plus

Stabilized

plus

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

Make rs143058480(A;G)

Make rs143058480(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15601893

Gene	BTD, HACL1

is a	snp
is	mentioned by
dbSNP	rs143058480
dbSNP (classic)	rs143058480
ClinGen	rs143058480
ebi	rs143058480
HLI	rs143058480
Exac	rs143058480
Gnomad	rs143058480
Varsome	rs143058480
LitVar	rs143058480
Map	rs143058480
PheGenI	rs143058480
Biobank	rs143058480
1000 genomes	rs143058480
hgdp	rs143058480
ensembl	rs143058480
geneview	rs143058480
scholar	rs143058480
google	rs143058480
pharmgkb	rs143058480
gwascentral	rs143058480
openSNP	rs143058480
23andMe	rs143058480
SNPshot	rs143058480
SNPdbe	rs143058480
MSV3d	rs143058480
GWAS Ctlg	rs143058480

Max Magnitude

0

ClinVar
Risk	rs143058480(G;G) rs143058480(T;T)
Alt	rs143058480(G;G) rs143058480(T;T)
Reference	Rs143058480(A;A)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	HACL1 BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15643400A>T
CLNSRC
CLNACC	RCV000411121.1,