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rs397514364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514364(C;T)
Make rs397514364(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644341
GeneBTD
is asnp
is mentioned by
dbSNPrs397514364
ebirs397514364
HLIrs397514364
Exacrs397514364
Varsomers397514364
Maprs397514364
PheGenIrs397514364
hapmaprs397514364
1000 genomesrs397514364
hgdprs397514364
ensemblrs397514364
gopubmedrs397514364
geneviewrs397514364
scholarrs397514364
googlers397514364
pharmgkbrs397514364
gwascentralrs397514364
openSNPrs397514364
23andMers397514364
23andMe allrs397514364
SNP Nexus

SNPshotrs397514364
SNPdbers397514364
MSV3drs397514364
GWAS Ctlgrs397514364
Max Magnitude0
ClinVar
Risk rs397514364(T;T)
Alt rs397514364(T;T)
Reference rs397514364(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685848C>T
CLNSRC ARUP BTD
CLNACC RCV000021934.1,