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rs397514382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514382(C;C)
Make rs397514382(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644599
GeneBTD
is asnp
is mentioned by
dbSNPrs397514382
ebirs397514382
HLIrs397514382
Exacrs397514382
Varsomers397514382
Maprs397514382
PheGenIrs397514382
hapmaprs397514382
1000 genomesrs397514382
hgdprs397514382
ensemblrs397514382
gopubmedrs397514382
geneviewrs397514382
scholarrs397514382
googlers397514382
pharmgkbrs397514382
gwascentralrs397514382
openSNPrs397514382
23andMers397514382
23andMe allrs397514382
SNP Nexus

SNPshotrs397514382
SNPdbers397514382
MSV3drs397514382
GWAS Ctlgrs397514382
Max Magnitude0
ClinVar
Risk rs397514382(C;C)
Alt rs397514382(C;C)
Reference rs397514382(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686106T>C
CLNSRC ARUP BTD
CLNACC RCV000021960.1,