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rs104893692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893692(A;C)
Make rs104893692(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645322
GeneBTD
is asnp
is mentioned by
dbSNPrs104893692
ebirs104893692
HLIrs104893692
Exacrs104893692
Varsomers104893692
Maprs104893692
PheGenIrs104893692
hapmaprs104893692
1000 genomesrs104893692
hgdprs104893692
ensemblrs104893692
gopubmedrs104893692
geneviewrs104893692
scholarrs104893692
googlers104893692
pharmgkbrs104893692
gwascentralrs104893692
openSNPrs104893692
23andMers104893692
23andMe allrs104893692
SNP Nexus

SNPshotrs104893692
SNPdbers104893692
MSV3drs104893692
GWAS Ctlgrs104893692
Max Magnitude0
OMIM609019
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893692(C;C)
Alt rs104893692(C;C)
Reference rs104893692(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686829A>C
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001980.1,