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rs397507173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507173(C;T)
Make rs397507173(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644415
GeneBTD
is asnp
is mentioned by
dbSNPrs397507173
ebirs397507173
HLIrs397507173
Exacrs397507173
Varsomers397507173
Maprs397507173
PheGenIrs397507173
hapmaprs397507173
1000 genomesrs397507173
hgdprs397507173
ensemblrs397507173
gopubmedrs397507173
geneviewrs397507173
scholarrs397507173
googlers397507173
pharmgkbrs397507173
gwascentralrs397507173
openSNPrs397507173
23andMers397507173
23andMe allrs397507173
SNP Nexus

SNPshotrs397507173
SNPdbers397507173
MSV3drs397507173
GWAS Ctlgrs397507173
Max Magnitude0
ClinVar
Risk rs397507173(T;T)
Alt rs397507173(T;T)
Reference rs397507173(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685922C>T
CLNSRC ARUP BTD
CLNACC RCV000021941.1,