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rs397514383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514383(C;T)
Make rs397514383(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644613
GeneBTD
is asnp
is mentioned by
dbSNPrs397514383
ebirs397514383
HLIrs397514383
Exacrs397514383
Varsomers397514383
Maprs397514383
PheGenIrs397514383
hapmaprs397514383
1000 genomesrs397514383
hgdprs397514383
ensemblrs397514383
gopubmedrs397514383
geneviewrs397514383
scholarrs397514383
googlers397514383
pharmgkbrs397514383
gwascentralrs397514383
openSNPrs397514383
23andMers397514383
23andMe allrs397514383
SNP Nexus

SNPshotrs397514383
SNPdbers397514383
MSV3drs397514383
GWAS Ctlgrs397514383
Max Magnitude0
ClinVar
Risk rs397514383(T;T)
Alt rs397514383(T;T)
Reference rs397514383(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686120C>T
CLNSRC ARUP BTD
CLNACC RCV000021961.1,