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rs1057517256

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517256(-;TC)
Make rs1057517256(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15645027
GeneBTD
is asnp
is mentioned by
dbSNPrs1057517256
dbSNP (old)rs1057517256
ClinGenrs1057517256
ebirs1057517256
HLIrs1057517256
Exacrs1057517256
Gnomadrs1057517256
Varsomers1057517256
Maprs1057517256
PheGenIrs1057517256
Biobankrs1057517256
1000 genomesrs1057517256
hgdprs1057517256
ensemblrs1057517256
gopubmedrs1057517256
geneviewrs1057517256
scholarrs1057517256
googlers1057517256
pharmgkbrs1057517256
gwascentralrs1057517256
openSNPrs1057517256
23andMers1057517256
23andMe allrs1057517256
SNPshotrs1057517256
SNPdbers1057517256
MSV3drs1057517256
GWAS Ctlgrs1057517256
Max Magnitude0
ClinVar
Risk rs1057517256(CT;CT)
Alt rs1057517256(CT;CT)
Reference Rs1057517256(-;-)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686533_15686534dupTC
CLNSRC
CLNACC RCV000410764.1,