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rs397514380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514380(G;T)
Make rs397514380(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644538
GeneBTD
is asnp
is mentioned by
dbSNPrs397514380
ebirs397514380
HLIrs397514380
Exacrs397514380
Varsomers397514380
Maprs397514380
PheGenIrs397514380
hapmaprs397514380
1000 genomesrs397514380
hgdprs397514380
ensemblrs397514380
gopubmedrs397514380
geneviewrs397514380
scholarrs397514380
googlers397514380
pharmgkbrs397514380
gwascentralrs397514380
openSNPrs397514380
23andMers397514380
23andMe allrs397514380
SNP Nexus

SNPshotrs397514380
SNPdbers397514380
MSV3drs397514380
GWAS Ctlgrs397514380
Max Magnitude0
ClinVar
Risk rs397514380(T;T)
Alt rs397514380(T;T)
Reference rs397514380(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686045G>T
CLNSRC ARUP BTD
CLNACC RCV000021957.1, RCV000185805.2,