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rs397514373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGT;CGT) 0 common in clinvar
(GTC;GTC) 0 common in clinvar
Make rs397514373(-;-)
Make rs397514373(-;CGT)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644450
GeneBTD
is asnp
is mentioned by
dbSNPrs397514373
ebirs397514373
HLIrs397514373
Exacrs397514373
Varsomers397514373
Maprs397514373
PheGenIrs397514373
hapmaprs397514373
1000 genomesrs397514373
hgdprs397514373
ensemblrs397514373
gopubmedrs397514373
geneviewrs397514373
scholarrs397514373
googlers397514373
pharmgkbrs397514373
gwascentralrs397514373
openSNPrs397514373
23andMers397514373
23andMe allrs397514373
SNP Nexus

SNPshotrs397514373
SNPdbers397514373
MSV3drs397514373
GWAS Ctlgrs397514373
Max Magnitude0
ClinVar
Risk rs397514373(;)
Alt rs397514373(;)
Reference rs397514373(GTC;GTC)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685957_15685959delCGT
CLNSRC ClinVar
CLNACC RCV000021945.1,