rs35145938

Orientation

plus

Stabilized

plus

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

Make rs35145938(C;T)

Make rs35145938(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645140

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs35145938
dbSNP (classic)	rs35145938
ClinGen	rs35145938
ebi	rs35145938
HLI	rs35145938
Exac	rs35145938
Gnomad	rs35145938
Varsome	rs35145938
LitVar	rs35145938
Map	rs35145938
PheGenI	rs35145938
Biobank	rs35145938
1000 genomes	rs35145938
hgdp	rs35145938
ensembl	rs35145938
geneview	rs35145938
scholar	rs35145938
google	rs35145938
pharmgkb	rs35145938
gwascentral	rs35145938
openSNP	rs35145938
23andMe	rs35145938
SNPshot	rs35145938
SNPdbe	rs35145938
MSV3d	rs35145938
GWAS Ctlg	rs35145938

GMAF

0.01194

Max Magnitude

3

ClinVar
Risk	rs35145938(A;A) rs35145938(T;T)
Alt	rs35145938(A;A) rs35145938(T;T)
Reference	Rs35145938(C;C)
Significance	Other
Disease	Biotinidase deficiency not specified not provided
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not specified not provided
Reversed	0
HGVS	NC_000003.11:g.15686647C>A; NC_000003.11:g.15686647C>T
CLNSRC	ARUP BTD
CLNACC	RCV000022003.1, RCV000032025.3, RCV000078063.5, RCV000429839.1,