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rs397514431

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Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514431(A;G)
Make rs397514431(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645475
GeneBTD
is asnp
is mentioned by
dbSNPrs397514431
ebirs397514431
HLIrs397514431
Exacrs397514431
Varsomers397514431
Maprs397514431
PheGenIrs397514431
hapmaprs397514431
1000 genomesrs397514431
hgdprs397514431
ensemblrs397514431
gopubmedrs397514431
geneviewrs397514431
scholarrs397514431
googlers397514431
pharmgkbrs397514431
gwascentralrs397514431
openSNPrs397514431
23andMers397514431
23andMe allrs397514431
SNP Nexus

SNPshotrs397514431
SNPdbers397514431
MSV3drs397514431
GWAS Ctlgrs397514431
Max Magnitude0
ClinVar
Risk rs397514431(G;G)
Alt rs397514431(G;G)
Reference rs397514431(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686982A>G
CLNSRC ARUP BTD
CLNACC RCV000022026.1,