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rs104893686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893686(G;G)
Make rs104893686(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645063
GeneBTD
is asnp
is mentioned by
dbSNPrs104893686
ebirs104893686
HLIrs104893686
Exacrs104893686
Varsomers104893686
Maprs104893686
PheGenIrs104893686
hapmaprs104893686
1000 genomesrs104893686
hgdprs104893686
ensemblrs104893686
gopubmedrs104893686
geneviewrs104893686
scholarrs104893686
googlers104893686
pharmgkbrs104893686
gwascentralrs104893686
openSNPrs104893686
23andMers104893686
23andMe allrs104893686
SNP Nexus

SNPshotrs104893686
SNPdbers104893686
MSV3drs104893686
GWAS Ctlgrs104893686
Max Magnitude0
OMIM609019
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893686(G;G)
Alt rs104893686(G;G)
Reference rs104893686(T;T)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686570T>G
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001981.3, RCV000185810.1,