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rs1057516252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516252(G;T)
Make rs1057516252(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15644985
GeneBTD
is asnp
is mentioned by
dbSNPrs1057516252
dbSNP (classic)rs1057516252
ClinGenrs1057516252
ebirs1057516252
HLIrs1057516252
Exacrs1057516252
Gnomadrs1057516252
Varsomers1057516252
LitVarrs1057516252
Maprs1057516252
PheGenIrs1057516252
Biobankrs1057516252
1000 genomesrs1057516252
hgdprs1057516252
ensemblrs1057516252
geneviewrs1057516252
scholarrs1057516252
googlers1057516252
pharmgkbrs1057516252
gwascentralrs1057516252
openSNPrs1057516252
23andMers1057516252
23andMe allrs1057516252
SNPshotrs1057516252
SNPdbers1057516252
MSV3drs1057516252
GWAS Ctlgrs1057516252
Max Magnitude0
ClinVar
Risk rs1057516252(T;T)
Alt rs1057516252(T;T)
Reference Rs1057516252(G;G)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686492G>T
CLNSRC
CLNACC RCV000410177.1,