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rs397514335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514335(C;C)
Make rs397514335(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645127
GeneBTD
is asnp
is mentioned by
dbSNPrs397514335
ebirs397514335
HLIrs397514335
Exacrs397514335
Varsomers397514335
Maprs397514335
PheGenIrs397514335
hapmaprs397514335
1000 genomesrs397514335
hgdprs397514335
ensemblrs397514335
gopubmedrs397514335
geneviewrs397514335
scholarrs397514335
googlers397514335
pharmgkbrs397514335
gwascentralrs397514335
openSNPrs397514335
23andMers397514335
23andMe allrs397514335
SNP Nexus

SNPshotrs397514335
SNPdbers397514335
MSV3drs397514335
GWAS Ctlgrs397514335
Max Magnitude0
ClinVar
Risk rs397514335(A,C;A,C)
Alt rs397514335(A,C;A,C)
Reference rs397514335(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686634G>A; NC_000003.11:g.15686634G>C
CLNSRC ARUP BTD
CLNACC RCV000022000.1, RCV000021890.1, RCV000022001.1,