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rs1057517225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057517225(-;-)
Make rs1057517225(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15645163
GeneBTD
is asnp
is mentioned by
dbSNPrs1057517225
dbSNP (classic)rs1057517225
ClinGenrs1057517225
ebirs1057517225
HLIrs1057517225
Exacrs1057517225
Gnomadrs1057517225
Varsomers1057517225
LitVarrs1057517225
Maprs1057517225
PheGenIrs1057517225
Biobankrs1057517225
1000 genomesrs1057517225
hgdprs1057517225
ensemblrs1057517225
geneviewrs1057517225
scholarrs1057517225
googlers1057517225
pharmgkbrs1057517225
gwascentralrs1057517225
openSNPrs1057517225
23andMers1057517225
SNPshotrs1057517225
SNPdbers1057517225
MSV3drs1057517225
GWAS Ctlgrs1057517225
Max Magnitude0
ClinVar
Risk rs1057517225(-;-)
Alt rs1057517225(-;-)
Reference Rs1057517225(AG;AG)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686670_15686671delAG
CLNSRC
CLNACC RCV000411441.1,