rs397507172

Orientation

plus

Stabilized

plus

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

Make rs397507172(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15641924

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397507172
dbSNP (classic)	rs397507172
ClinGen	rs397507172
ebi	rs397507172
HLI	rs397507172
Exac	rs397507172
Gnomad	rs397507172
Varsome	rs397507172
LitVar	rs397507172
Map	rs397507172
PheGenI	rs397507172
Biobank	rs397507172
1000 genomes	rs397507172
hgdp	rs397507172
ensembl	rs397507172
geneview	rs397507172
scholar	rs397507172
google	rs397507172
pharmgkb	rs397507172
gwascentral	rs397507172
openSNP	rs397507172
23andMe	rs397507172
SNPshot	rs397507172
SNPdbe	rs397507172
MSV3d	rs397507172
GWAS Ctlg	rs397507172

Max Magnitude

3

ClinVar
Risk	rs397507172(G;G)
Alt	rs397507172(G;G)
Reference	Rs397507172(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15683431T>G
CLNSRC	ARUP BTD
CLNACC	RCV000021915.1,