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rs397507172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397507172(G;G)
Make rs397507172(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641924
GeneBTD
is asnp
is mentioned by
dbSNPrs397507172
ebirs397507172
HLIrs397507172
Exacrs397507172
Varsomers397507172
Maprs397507172
PheGenIrs397507172
hapmaprs397507172
1000 genomesrs397507172
hgdprs397507172
ensemblrs397507172
gopubmedrs397507172
geneviewrs397507172
scholarrs397507172
googlers397507172
pharmgkbrs397507172
gwascentralrs397507172
openSNPrs397507172
23andMers397507172
23andMe allrs397507172
SNP Nexus

SNPshotrs397507172
SNPdbers397507172
MSV3drs397507172
GWAS Ctlgrs397507172
Max Magnitude0
ClinVar
Risk rs397507172(G;G)
Alt rs397507172(G;G)
Reference rs397507172(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683431T>G
CLNSRC ARUP BTD
CLNACC RCV000021915.1,