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rs397514427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514427(C;G)
Make rs397514427(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645387
GeneBTD
is asnp
is mentioned by
dbSNPrs397514427
ebirs397514427
HLIrs397514427
Exacrs397514427
Varsomers397514427
Maprs397514427
PheGenIrs397514427
hapmaprs397514427
1000 genomesrs397514427
hgdprs397514427
ensemblrs397514427
gopubmedrs397514427
geneviewrs397514427
scholarrs397514427
googlers397514427
pharmgkbrs397514427
gwascentralrs397514427
openSNPrs397514427
23andMers397514427
23andMe allrs397514427
SNP Nexus

SNPshotrs397514427
SNPdbers397514427
MSV3drs397514427
GWAS Ctlgrs397514427
Max Magnitude0
ClinVar
Risk rs397514427(G;G)
Alt rs397514427(G;G)
Reference rs397514427(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686894C>G
CLNSRC ClinVar
CLNACC RCV000022022.1,