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rs397514337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514337(A;A)
Make rs397514337(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635538
GeneBTD
is asnp
is mentioned by
dbSNPrs397514337
ebirs397514337
HLIrs397514337
Exacrs397514337
Varsomers397514337
Maprs397514337
PheGenIrs397514337
hapmaprs397514337
1000 genomesrs397514337
hgdprs397514337
ensemblrs397514337
gopubmedrs397514337
geneviewrs397514337
scholarrs397514337
googlers397514337
pharmgkbrs397514337
gwascentralrs397514337
openSNPrs397514337
23andMers397514337
23andMe allrs397514337
SNP Nexus

SNPshotrs397514337
SNPdbers397514337
MSV3drs397514337
GWAS Ctlgrs397514337
Max Magnitude0
ClinVar
Risk rs397514337(A,T;A,T)
Alt rs397514337(A,T;A,T)
Reference rs397514337(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677045C>A
CLNSRC ARUP BTD
CLNACC RCV000021892.1,