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rs397514334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514334(C;C)
Make rs397514334(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644721
GeneBTD
is asnp
is mentioned by
dbSNPrs397514334
ebirs397514334
HLIrs397514334
Exacrs397514334
Varsomers397514334
Maprs397514334
PheGenIrs397514334
hapmaprs397514334
1000 genomesrs397514334
hgdprs397514334
ensemblrs397514334
gopubmedrs397514334
geneviewrs397514334
scholarrs397514334
googlers397514334
pharmgkbrs397514334
gwascentralrs397514334
openSNPrs397514334
23andMers397514334
23andMe allrs397514334
SNP Nexus

SNPshotrs397514334
SNPdbers397514334
MSV3drs397514334
GWAS Ctlgrs397514334
Max Magnitude0
ClinVar
Risk rs397514334(C;C)
Alt rs397514334(C;C)
Reference rs397514334(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686228G>C
CLNSRC ARUP BTD
CLNACC RCV000021889.1,