rs375712490

Orientation

plus

Stabilized

plus

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

Make rs375712490(G;T)

Make rs375712490(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641939

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs375712490
dbSNP (classic)	rs375712490
ClinGen	rs375712490
ebi	rs375712490
HLI	rs375712490
Exac	rs375712490
Gnomad	rs375712490
Varsome	rs375712490
LitVar	rs375712490
Map	rs375712490
PheGenI	rs375712490
Biobank	rs375712490
1000 genomes	rs375712490
hgdp	rs375712490
ensembl	rs375712490
geneview	rs375712490
scholar	rs375712490
google	rs375712490
pharmgkb	rs375712490
gwascentral	rs375712490
openSNP	rs375712490
23andMe	rs375712490
SNPshot	rs375712490
SNPdbe	rs375712490
MSV3d	rs375712490
GWAS Ctlg	rs375712490

Max Magnitude

0

ClinVar
Risk	rs375712490(T;T)
Alt	rs375712490(T;T)
Reference	Rs375712490(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683446G>T
CLNSRC	ARUP BTD
CLNACC	RCV000021918.1,