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rs1057517362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517362(-;-)
Make rs1057517362(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15645180
GeneBTD
is asnp
is mentioned by
dbSNPrs1057517362
dbSNP (old)rs1057517362
ClinGenrs1057517362
ebirs1057517362
HLIrs1057517362
Exacrs1057517362
Gnomadrs1057517362
Varsomers1057517362
LitVarrs1057517362
Maprs1057517362
PheGenIrs1057517362
Biobankrs1057517362
1000 genomesrs1057517362
hgdprs1057517362
ensemblrs1057517362
gopubmedrs1057517362
geneviewrs1057517362
scholarrs1057517362
googlers1057517362
pharmgkbrs1057517362
gwascentralrs1057517362
openSNPrs1057517362
23andMers1057517362
23andMe allrs1057517362
SNPshotrs1057517362
SNPdbers1057517362
MSV3drs1057517362
GWAS Ctlgrs1057517362
Max Magnitude0
ClinVar
Risk rs1057517362(-;-)
Alt rs1057517362(-;-)
Reference Rs1057517362(G;G)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686687delG
CLNSRC
CLNACC RCV000410785.1,