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rs397514363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514363(C;T)
Make rs397514363(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644325
GeneBTD
is asnp
is mentioned by
dbSNPrs397514363
ebirs397514363
HLIrs397514363
Exacrs397514363
Varsomers397514363
Maprs397514363
PheGenIrs397514363
hapmaprs397514363
1000 genomesrs397514363
hgdprs397514363
ensemblrs397514363
gopubmedrs397514363
geneviewrs397514363
scholarrs397514363
googlers397514363
pharmgkbrs397514363
gwascentralrs397514363
openSNPrs397514363
23andMers397514363
23andMe allrs397514363
SNP Nexus

SNPshotrs397514363
SNPdbers397514363
MSV3drs397514363
GWAS Ctlgrs397514363
Max Magnitude0
ClinVar
Risk rs397514363(T;T)
Alt rs397514363(T;T)
Reference rs397514363(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685832C>T
CLNSRC ARUP BTD
CLNACC RCV000021931.1,