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rs397507176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507176(A;G)
Make rs397507176(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644824
GeneBTD
is asnp
is mentioned by
dbSNPrs397507176
dbSNP (classic)rs397507176
ClinGenrs397507176
ebirs397507176
HLIrs397507176
Exacrs397507176
Gnomadrs397507176
Varsomers397507176
LitVarrs397507176
Maprs397507176
PheGenIrs397507176
Biobankrs397507176
1000 genomesrs397507176
hgdprs397507176
ensemblrs397507176
geneviewrs397507176
scholarrs397507176
googlers397507176
pharmgkbrs397507176
gwascentralrs397507176
openSNPrs397507176
23andMers397507176
SNPshotrs397507176
SNPdbers397507176
MSV3drs397507176
GWAS Ctlgrs397507176
Max Magnitude0
ClinVar
Risk rs397507176(G;G)
Alt rs397507176(G;G)
Reference Rs397507176(A;A)
Significance Pathogenic
Disease Biotinidase deficiency not specified
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not specified
Reversed 0
HGVS NC_000003.11:g.15686331A>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000021978.1, RCV000078083.5,