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rs397514407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514407(-;-)
Make rs397514407(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645095
GeneBTD
is asnp
is mentioned by
dbSNPrs397514407
ebirs397514407
HLIrs397514407
Exacrs397514407
Varsomers397514407
Maprs397514407
PheGenIrs397514407
hapmaprs397514407
1000 genomesrs397514407
hgdprs397514407
ensemblrs397514407
gopubmedrs397514407
geneviewrs397514407
scholarrs397514407
googlers397514407
pharmgkbrs397514407
gwascentralrs397514407
openSNPrs397514407
23andMers397514407
23andMe allrs397514407
SNP Nexus

SNPshotrs397514407
SNPdbers397514407
MSV3drs397514407
GWAS Ctlgrs397514407
Max Magnitude0
ClinVar
Risk rs397514407(;)
Alt rs397514407(;)
Reference rs397514407(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686602delC
CLNSRC ClinVar
CLNACC RCV000021993.1,