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rs397514414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514414(G;G)
Make rs397514414(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645131
GeneBTD
is asnp
is mentioned by
dbSNPrs397514414
ebirs397514414
HLIrs397514414
Exacrs397514414
Varsomers397514414
Maprs397514414
PheGenIrs397514414
hapmaprs397514414
1000 genomesrs397514414
hgdprs397514414
ensemblrs397514414
gopubmedrs397514414
geneviewrs397514414
scholarrs397514414
googlers397514414
pharmgkbrs397514414
gwascentralrs397514414
openSNPrs397514414
23andMers397514414
23andMe allrs397514414
SNP Nexus

SNPshotrs397514414
SNPdbers397514414
MSV3drs397514414
GWAS Ctlgrs397514414
Max Magnitude0
ClinVar
Risk rs397514414(G;G)
Alt rs397514414(G;G)
Reference rs397514414(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686638T>G
CLNSRC ARUP BTD
CLNACC RCV000022002.1,