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rs397514345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514345(A;C)
Make rs397514345(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645217
GeneBTD
is asnp
is mentioned by
dbSNPrs397514345
dbSNP (old)rs397514345
ClinGenrs397514345
ebirs397514345
HLIrs397514345
Exacrs397514345
Varsomers397514345
Maprs397514345
PheGenIrs397514345
Biobankrs397514345
1000 genomesrs397514345
hgdprs397514345
ensemblrs397514345
gopubmedrs397514345
geneviewrs397514345
scholarrs397514345
googlers397514345
pharmgkbrs397514345
gwascentralrs397514345
openSNPrs397514345
23andMers397514345
23andMe allrs397514345
SNP Nexus

SNPshotrs397514345
SNPdbers397514345
MSV3drs397514345
GWAS Ctlgrs397514345
Max Magnitude0
ClinVar
Risk rs397514345(C;C) rs397514345(G;G)
Alt rs397514345(C;C) rs397514345(G;G)
Reference Rs397514345(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686724A>C
CLNSRC ARUP BTD
CLNACC RCV000021903.1,