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rs397514400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514400(C;T)
Make rs397514400(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644962
GeneBTD
is asnp
is mentioned by
dbSNPrs397514400
ebirs397514400
HLIrs397514400
Exacrs397514400
Varsomers397514400
Maprs397514400
PheGenIrs397514400
hapmaprs397514400
1000 genomesrs397514400
hgdprs397514400
ensemblrs397514400
gopubmedrs397514400
geneviewrs397514400
scholarrs397514400
googlers397514400
pharmgkbrs397514400
gwascentralrs397514400
openSNPrs397514400
23andMers397514400
23andMe allrs397514400
SNP Nexus

SNPshotrs397514400
SNPdbers397514400
MSV3drs397514400
GWAS Ctlgrs397514400
Max Magnitude0
ClinVar
Risk rs397514400(T;T)
Alt rs397514400(T;T)
Reference rs397514400(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686469C>T
CLNSRC ARUP BTD
CLNACC RCV000021982.1,