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rs1057516812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516812(-;A)
Make rs1057516812(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15635486
GeneBTD
is asnp
is mentioned by
dbSNPrs1057516812
dbSNP (old)rs1057516812
ClinGenrs1057516812
ebirs1057516812
HLIrs1057516812
Exacrs1057516812
Gnomadrs1057516812
Varsomers1057516812
LitVarrs1057516812
Maprs1057516812
PheGenIrs1057516812
Biobankrs1057516812
1000 genomesrs1057516812
hgdprs1057516812
ensemblrs1057516812
gopubmedrs1057516812
geneviewrs1057516812
scholarrs1057516812
googlers1057516812
pharmgkbrs1057516812
gwascentralrs1057516812
openSNPrs1057516812
23andMers1057516812
23andMe allrs1057516812
SNPshotrs1057516812
SNPdbers1057516812
MSV3drs1057516812
GWAS Ctlgrs1057516812
Max Magnitude0
ClinVar
Risk rs1057516812(A;A)
Alt rs1057516812(A;A)
Reference Rs1057516812(-;-)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15676993dupA
CLNSRC
CLNACC RCV000411926.1,