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rs104893688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893688(C;T)
Make rs104893688(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645451
GeneBTD
is asnp
is mentioned by
dbSNPrs104893688
ebirs104893688
HLIrs104893688
Exacrs104893688
Varsomers104893688
Maprs104893688
PheGenIrs104893688
hapmaprs104893688
1000 genomesrs104893688
hgdprs104893688
ensemblrs104893688
gopubmedrs104893688
geneviewrs104893688
scholarrs104893688
googlers104893688
pharmgkbrs104893688
gwascentralrs104893688
openSNPrs104893688
23andMers104893688
23andMe allrs104893688
SNP Nexus

SNPshotrs104893688
SNPdbers104893688
MSV3drs104893688
GWAS Ctlgrs104893688
GMAF0.0004591
Max Magnitude0
OMIM609019
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893688(T;T)
Alt rs104893688(T;T)
Reference rs104893688(C;C)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686958C>T
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001974.4, RCV000185809.2,