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rs104893687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893687(C;T)
Make rs104893687(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635614
GeneBTD, GAPDHP31
is asnp
is mentioned by
dbSNPrs104893687
ebirs104893687
HLIrs104893687
Exacrs104893687
Varsomers104893687
Maprs104893687
PheGenIrs104893687
hapmaprs104893687
1000 genomesrs104893687
hgdprs104893687
ensemblrs104893687
gopubmedrs104893687
geneviewrs104893687
scholarrs104893687
googlers104893687
pharmgkbrs104893687
gwascentralrs104893687
openSNPrs104893687
23andMers104893687
23andMe allrs104893687
SNP Nexus

SNPshotrs104893687
SNPdbers104893687
MSV3drs104893687
GWAS Ctlgrs104893687
Max Magnitude0
OMIM609019
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893687(T;T)
Alt rs104893687(T;T)
Reference rs104893687(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.15677121C>T
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001982.1, RCV000021903.1, RCV000032009.1, RCV000185801.1,