rs372844636

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a biotinidase deficiency mutation

Make rs372844636(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644487

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs372844636
dbSNP (classic)	rs372844636
ClinGen	rs372844636
ebi	rs372844636
HLI	rs372844636
Exac	rs372844636
Gnomad	rs372844636
Varsome	rs372844636
LitVar	rs372844636
Map	rs372844636
PheGenI	rs372844636
Biobank	rs372844636
1000 genomes	rs372844636
hgdp	rs372844636
ensembl	rs372844636
geneview	rs372844636
scholar	rs372844636
google	rs372844636
pharmgkb	rs372844636
gwascentral	rs372844636
openSNP	rs372844636
23andMe	rs372844636
SNPshot	rs372844636
SNPdbe	rs372844636
MSV3d	rs372844636
GWAS Ctlg	rs372844636

Max Magnitude

3

ClinVar
Risk	rs372844636(T;T)
Alt	rs372844636(T;T)
Reference	Rs372844636(C;C)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685994C>T
CLNSRC	ARUP BTD
CLNACC	RCV000021950.1,