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rs397514359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514359(C;C)
Make rs397514359(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15642043
GeneBTD
is asnp
is mentioned by
dbSNPrs397514359
ebirs397514359
HLIrs397514359
Exacrs397514359
Varsomers397514359
Maprs397514359
PheGenIrs397514359
hapmaprs397514359
1000 genomesrs397514359
hgdprs397514359
ensemblrs397514359
gopubmedrs397514359
geneviewrs397514359
scholarrs397514359
googlers397514359
pharmgkbrs397514359
gwascentralrs397514359
openSNPrs397514359
23andMers397514359
23andMe allrs397514359
SNP Nexus

SNPshotrs397514359
SNPdbers397514359
MSV3drs397514359
GWAS Ctlgrs397514359
Max Magnitude0
ClinVar
Risk rs397514359(C;C)
Alt rs397514359(C;C)
Reference rs397514359(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683550T>C
CLNSRC ARUP BTD
CLNACC RCV000021926.1,