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rs397514368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514368(-;-)
Make rs397514368(-;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644400
GeneBTD
is asnp
is mentioned by
dbSNPrs397514368
ebirs397514368
HLIrs397514368
Exacrs397514368
Varsomers397514368
Maprs397514368
PheGenIrs397514368
hapmaprs397514368
1000 genomesrs397514368
hgdprs397514368
ensemblrs397514368
gopubmedrs397514368
geneviewrs397514368
scholarrs397514368
googlers397514368
pharmgkbrs397514368
gwascentralrs397514368
openSNPrs397514368
23andMers397514368
23andMe allrs397514368
SNP Nexus

SNPshotrs397514368
SNPdbers397514368
MSV3drs397514368
GWAS Ctlgrs397514368
Max Magnitude0
ClinVar
Risk rs397514368(;)
Alt rs397514368(;)
Reference rs397514368(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685907delA
CLNSRC ClinVar
CLNACC RCV000021939.1,