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rs397514388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514388(C;G)
Make rs397514388(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644688
GeneBTD
is asnp
is mentioned by
dbSNPrs397514388
ClinGenrs397514388
ebirs397514388
HLIrs397514388
Exacrs397514388
Varsomers397514388
Maprs397514388
PheGenIrs397514388
hapmaprs397514388
1000 genomesrs397514388
hgdprs397514388
ensemblrs397514388
gopubmedrs397514388
geneviewrs397514388
scholarrs397514388
googlers397514388
pharmgkbrs397514388
gwascentralrs397514388
openSNPrs397514388
23andMers397514388
23andMe allrs397514388
SNP Nexus

SNPshotrs397514388
SNPdbers397514388
MSV3drs397514388
GWAS Ctlgrs397514388
Max Magnitude0
ClinVar
Risk rs397514388(G;G)
Alt rs397514388(G;G)
Reference Rs397514388(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686195C>G
CLNSRC ARUP BTD
CLNACC RCV000021966.1,