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rs377651057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377651057(A;A)
Make rs377651057(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644791
GeneBTD
is asnp
is mentioned by
dbSNPrs377651057
dbSNP (classic)rs377651057
ClinGenrs377651057
ebirs377651057
HLIrs377651057
Exacrs377651057
Gnomadrs377651057
Varsomers377651057
LitVarrs377651057
Maprs377651057
PheGenIrs377651057
Biobankrs377651057
1000 genomesrs377651057
hgdprs377651057
ensemblrs377651057
geneviewrs377651057
scholarrs377651057
googlers377651057
pharmgkbrs377651057
gwascentralrs377651057
openSNPrs377651057
23andMers377651057
SNPshotrs377651057
SNPdbers377651057
MSV3drs377651057
GWAS Ctlgrs377651057
Max Magnitude0
ClinVar
Risk rs377651057(A;A)
Alt rs377651057(A;A)
Reference Rs377651057(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686298G>A
CLNSRC ARUP BTD
CLNACC RCV000021977.1,