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rs397514384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514384(C;C)
Make rs397514384(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644620
GeneBTD
is asnp
is mentioned by
dbSNPrs397514384
ebirs397514384
HLIrs397514384
Exacrs397514384
Varsomers397514384
Maprs397514384
PheGenIrs397514384
hapmaprs397514384
1000 genomesrs397514384
hgdprs397514384
ensemblrs397514384
gopubmedrs397514384
geneviewrs397514384
scholarrs397514384
googlers397514384
pharmgkbrs397514384
gwascentralrs397514384
openSNPrs397514384
23andMers397514384
23andMe allrs397514384
SNP Nexus

SNPshotrs397514384
SNPdbers397514384
MSV3drs397514384
GWAS Ctlgrs397514384
Max Magnitude0
ClinVar
Risk rs397514384(C;C)
Alt rs397514384(C;C)
Reference Rs397514384(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686127T>C
CLNSRC ARUP BTD
CLNACC RCV000021962.1,