rs1057516252

Orientation

plus

Stabilized

plus

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

Make rs1057516252(G;T)

Make rs1057516252(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

15644985

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs1057516252
dbSNP (classic)	rs1057516252
ClinGen	rs1057516252
ebi	rs1057516252
HLI	rs1057516252
Exac	rs1057516252
Gnomad	rs1057516252
Varsome	rs1057516252
LitVar	rs1057516252
Map	rs1057516252
PheGenI	rs1057516252
Biobank	rs1057516252
1000 genomes	rs1057516252
hgdp	rs1057516252
ensembl	rs1057516252
geneview	rs1057516252
scholar	rs1057516252
google	rs1057516252
pharmgkb	rs1057516252
gwascentral	rs1057516252
openSNP	rs1057516252
23andMe	rs1057516252
SNPshot	rs1057516252
SNPdbe	rs1057516252
MSV3d	rs1057516252
GWAS Ctlg	rs1057516252

Max Magnitude

0

ClinVar
Risk	rs1057516252(T;T)
Alt	rs1057516252(T;T)
Reference	Rs1057516252(G;G)
Significance	Probable-Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15686492G>T
CLNSRC
CLNACC	RCV000410177.1,