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rs397514365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs397514365(-;-)
Make rs397514365(-;AG)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644346
GeneBTD
is asnp
is mentioned by
dbSNPrs397514365
ebirs397514365
HLIrs397514365
Exacrs397514365
Varsomers397514365
Maprs397514365
PheGenIrs397514365
hapmaprs397514365
1000 genomesrs397514365
hgdprs397514365
ensemblrs397514365
gopubmedrs397514365
geneviewrs397514365
scholarrs397514365
googlers397514365
pharmgkbrs397514365
gwascentralrs397514365
openSNPrs397514365
23andMers397514365
23andMe allrs397514365
SNP Nexus

SNPshotrs397514365
SNPdbers397514365
MSV3drs397514365
GWAS Ctlgrs397514365
Max Magnitude0
ClinVar
Risk rs397514365(;)
Alt rs397514365(;)
Reference rs397514365(AG;AG)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685853_15685854delAG
CLNSRC ClinVar
CLNACC RCV000021935.1,