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rs181396238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs181396238(A;A)
Make rs181396238(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645288
GeneBTD
is asnp
is mentioned by
dbSNPrs181396238
ebirs181396238
HLIrs181396238
Exacrs181396238
Varsomers181396238
Maprs181396238
PheGenIrs181396238
hapmaprs181396238
1000 genomesrs181396238
hgdprs181396238
ensemblrs181396238
gopubmedrs181396238
geneviewrs181396238
scholarrs181396238
googlers181396238
pharmgkbrs181396238
gwascentralrs181396238
openSNPrs181396238
23andMers181396238
23andMe allrs181396238
SNP Nexus

SNPshotrs181396238
SNPdbers181396238
MSV3drs181396238
GWAS Ctlgrs181396238
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs181396238(A,C;A,C)
Alt rs181396238(A,C;A,C)
Reference rs181396238(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686795G>A; NC_000003.11:g.15686795G>C
CLNSRC ARUP BTD
CLNACC RCV000022034.1, RCV000022014.1,