rs397507174

Orientation

plus

Stabilized

plus

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

Make rs397507174(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15644485

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397507174
dbSNP (classic)	rs397507174
ClinGen	rs397507174
ebi	rs397507174
HLI	rs397507174
Exac	rs397507174
Gnomad	rs397507174
Varsome	rs397507174
LitVar	rs397507174
Map	rs397507174
PheGenI	rs397507174
Biobank	rs397507174
1000 genomes	rs397507174
hgdp	rs397507174
ensembl	rs397507174
geneview	rs397507174
scholar	rs397507174
google	rs397507174
pharmgkb	rs397507174
gwascentral	rs397507174
openSNP	rs397507174
23andMe	rs397507174
SNPshot	rs397507174
SNPdbe	rs397507174
MSV3d	rs397507174
GWAS Ctlg	rs397507174

Max Magnitude

3

ClinVar
Risk	rs397507174(G;G)
Alt	rs397507174(G;G)
Reference	Rs397507174(A;A)
Significance	Other
Disease	Biotinidase deficiency
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency
Reversed	0
HGVS	NC_000003.11:g.15685992A>G
CLNSRC	ARUP ARUP BTD
CLNACC	RCV000021949.2,