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rs397514350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514350(A;A)
Make rs397514350(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635677
GeneBTD
is asnp
is mentioned by
dbSNPrs397514350
ebirs397514350
HLIrs397514350
Exacrs397514350
Varsomers397514350
Maprs397514350
PheGenIrs397514350
hapmaprs397514350
1000 genomesrs397514350
hgdprs397514350
ensemblrs397514350
gopubmedrs397514350
geneviewrs397514350
scholarrs397514350
googlers397514350
pharmgkbrs397514350
gwascentralrs397514350
openSNPrs397514350
23andMers397514350
23andMe allrs397514350
SNP Nexus

SNPshotrs397514350
SNPdbers397514350
MSV3drs397514350
GWAS Ctlgrs397514350
Max Magnitude0
ClinVar
Risk rs397514350(A;A)
Alt rs397514350(A;A)
Reference rs397514350(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677184G>A
CLNSRC ARUP BTD
CLNACC RCV000021913.1,