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rs1057517114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517114(-;-)
Make rs1057517114(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15601895
GeneBTD, HACL1
is asnp
is mentioned by
dbSNPrs1057517114
dbSNP (old)rs1057517114
ClinGenrs1057517114
ebirs1057517114
HLIrs1057517114
Exacrs1057517114
Gnomadrs1057517114
Varsomers1057517114
Maprs1057517114
PheGenIrs1057517114
Biobankrs1057517114
1000 genomesrs1057517114
hgdprs1057517114
ensemblrs1057517114
gopubmedrs1057517114
geneviewrs1057517114
scholarrs1057517114
googlers1057517114
pharmgkbrs1057517114
gwascentralrs1057517114
openSNPrs1057517114
23andMers1057517114
23andMe allrs1057517114
SNPshotrs1057517114
SNPdbers1057517114
MSV3drs1057517114
GWAS Ctlgrs1057517114
Max Magnitude0
ClinVar
Risk rs1057517114(-;-)
Alt rs1057517114(-;-)
Reference Rs1057517114(G;G)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene HACL1 BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15643402delG
CLNSRC
CLNACC RCV000412426.1,