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rs397514410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514410(C;C)
Make rs397514410(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645109
GeneBTD
is asnp
is mentioned by
dbSNPrs397514410
ebirs397514410
HLIrs397514410
Exacrs397514410
Varsomers397514410
Maprs397514410
PheGenIrs397514410
hapmaprs397514410
1000 genomesrs397514410
hgdprs397514410
ensemblrs397514410
gopubmedrs397514410
geneviewrs397514410
scholarrs397514410
googlers397514410
pharmgkbrs397514410
gwascentralrs397514410
openSNPrs397514410
23andMers397514410
23andMe allrs397514410
SNP Nexus

SNPshotrs397514410
SNPdbers397514410
MSV3drs397514410
GWAS Ctlgrs397514410
Max Magnitude0
ClinVar
Risk rs397514410(C;C)
Alt rs397514410(C;C)
Reference Rs397514410(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686616G>C
CLNSRC ARUP BTD
CLNACC RCV000021996.1,