rs181396238

Orientation

plus

Stabilized

plus

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

Make rs181396238(A;A)

Make rs181396238(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

15645288

Gene

BTD

is a	snp
is	mentioned by
dbSNP	rs181396238
dbSNP (classic)	rs181396238
ClinGen	rs181396238
ebi	rs181396238
HLI	rs181396238
Exac	rs181396238
Gnomad	rs181396238
Varsome	rs181396238
LitVar	rs181396238
Map	rs181396238
PheGenI	rs181396238
Biobank	rs181396238
1000 genomes	rs181396238
hgdp	rs181396238
ensembl	rs181396238
geneview	rs181396238
scholar	rs181396238
google	rs181396238
pharmgkb	rs181396238
gwascentral	rs181396238
openSNP	rs181396238
23andMe	rs181396238
SNPshot	rs181396238
SNPdbe	rs181396238
MSV3d	rs181396238
GWAS Ctlg	rs181396238

GMAF

0.001377

Max Magnitude

3

ClinVar
Risk	rs181396238(A;A) rs181396238(C;C)
Alt	rs181396238(A;A) rs181396238(C;C)
Reference	Rs181396238(G;G)
Significance	Pathogenic
Disease	Biotinidase deficiency not provided
Variation	info
Gene	BTD
CLNDBN	Biotinidase deficiency not provided
Reversed	0
HGVS	NC_000003.11:g.15686795G>A; NC_000003.11:g.15686795G>C
CLNSRC	ARUP BTD
CLNACC	RCV000022034.1, RCV000022014.1, RCV000484254.1,