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rs397514385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a biotinidase deficiency mutation
Make rs397514385(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644650
GeneBTD
is asnp
is mentioned by
dbSNPrs397514385
dbSNP (classic)rs397514385
ClinGenrs397514385
ebirs397514385
HLIrs397514385
Exacrs397514385
Gnomadrs397514385
Varsomers397514385
LitVarrs397514385
Maprs397514385
PheGenIrs397514385
Biobankrs397514385
1000 genomesrs397514385
hgdprs397514385
ensemblrs397514385
geneviewrs397514385
scholarrs397514385
googlers397514385
pharmgkbrs397514385
gwascentralrs397514385
openSNPrs397514385
23andMers397514385
SNPshotrs397514385
SNPdbers397514385
MSV3drs397514385
GWAS Ctlgrs397514385
Max Magnitude3
ClinVar
Risk rs397514385(T;T)
Alt rs397514385(T;T)
Reference Rs397514385(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686157A>T
CLNSRC ARUP BTD
CLNACC RCV000021963.1, RCV000021964.1,