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rs397514360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514360(A;A)
Make rs397514360(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15642057
GeneBTD
is asnp
is mentioned by
dbSNPrs397514360
ebirs397514360
HLIrs397514360
Exacrs397514360
Varsomers397514360
Maprs397514360
PheGenIrs397514360
hapmaprs397514360
1000 genomesrs397514360
hgdprs397514360
ensemblrs397514360
gopubmedrs397514360
geneviewrs397514360
scholarrs397514360
googlers397514360
pharmgkbrs397514360
gwascentralrs397514360
openSNPrs397514360
23andMers397514360
23andMe allrs397514360
SNP Nexus

SNPshotrs397514360
SNPdbers397514360
MSV3drs397514360
GWAS Ctlgrs397514360
Max Magnitude0
ClinVar
Risk rs397514360(A;A)
Alt rs397514360(A;A)
Reference rs397514360(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683564G>A
CLNSRC ARUP BTD
CLNACC RCV000021928.1,