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rs1057516223

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516223(-;CATT)
Make rs1057516223(CATT;CATT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15641973
GeneBTD
is asnp
is mentioned by
dbSNPrs1057516223
dbSNP (old)rs1057516223
ClinGenrs1057516223
ebirs1057516223
HLIrs1057516223
Exacrs1057516223
Gnomadrs1057516223
Varsomers1057516223
Maprs1057516223
PheGenIrs1057516223
Biobankrs1057516223
1000 genomesrs1057516223
hgdprs1057516223
ensemblrs1057516223
gopubmedrs1057516223
geneviewrs1057516223
scholarrs1057516223
googlers1057516223
pharmgkbrs1057516223
gwascentralrs1057516223
openSNPrs1057516223
23andMers1057516223
23andMe allrs1057516223
SNPshotrs1057516223
SNPdbers1057516223
MSV3drs1057516223
GWAS Ctlgrs1057516223
Max Magnitude0
ClinVar
Risk rs1057516223(CATT;CATT)
Alt rs1057516223(CATT;CATT)
Reference Rs1057516223(-;-)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683477_15683480dupCATT
CLNSRC
CLNACC RCV000410710.1,