rs397514333

Orientation

plus

Stabilized

plus

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

Make rs397514333(C;C)

Make rs397514333(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15635591

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs397514333
dbSNP (classic)	rs397514333
ClinGen	rs397514333
ebi	rs397514333
HLI	rs397514333
Exac	rs397514333
Gnomad	rs397514333
Varsome	rs397514333
LitVar	rs397514333
Map	rs397514333
PheGenI	rs397514333
Biobank	rs397514333
1000 genomes	rs397514333
hgdp	rs397514333
ensembl	rs397514333
geneview	rs397514333
scholar	rs397514333
google	rs397514333
pharmgkb	rs397514333
gwascentral	rs397514333
openSNP	rs397514333
23andMe	rs397514333
SNPshot	rs397514333
SNPdbe	rs397514333
MSV3d	rs397514333
GWAS Ctlg	rs397514333

Max Magnitude

0

ClinVar
Risk	rs397514333(C;C)
Alt	rs397514333(C;C)
Reference	Rs397514333(T;T)
Significance	Pathogenic
Disease	Biotinidase deficiency not specified
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not specified
Reversed	0
HGVS	NC_000003.11:g.15677098T>C
CLNSRC	ARUP BTD
CLNACC	RCV000021886.1, RCV000021900.1, RCV000021901.1, RCV000427971.1,