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rs28934601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28934601(A;G)
Make rs28934601(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644611
GeneBTD
is asnp
is mentioned by
dbSNPrs28934601
ebirs28934601
HLIrs28934601
Exacrs28934601
Varsomers28934601
Maprs28934601
PheGenIrs28934601
hapmaprs28934601
1000 genomesrs28934601
hgdprs28934601
ensemblrs28934601
gopubmedrs28934601
geneviewrs28934601
scholarrs28934601
googlers28934601
pharmgkbrs28934601
gwascentralrs28934601
openSNPrs28934601
23andMers28934601
23andMe allrs28934601
SNP Nexus

SNPshotrs28934601
SNPdbers28934601
MSV3drs28934601
GWAS Ctlgrs28934601
Max Magnitude0
OMIM609019
DescBIOTINIDASE DEFICIENCY
Variant0006
Relatedalso
Neighborrs13073139
Distance244


ClinVar
Risk rs28934601(G;G)
Alt rs28934601(G;G)
Reference rs28934601(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686118A>G
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001978.3,