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rs1057516213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516213(-;A)
Make rs1057516213(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107893264
GeneDLD
is asnp
is mentioned by
dbSNPrs1057516213
dbSNP (old)rs1057516213
ClinGenrs1057516213
ebirs1057516213
HLIrs1057516213
Exacrs1057516213
Gnomadrs1057516213
Varsomers1057516213
Maprs1057516213
PheGenIrs1057516213
Biobankrs1057516213
1000 genomesrs1057516213
hgdprs1057516213
ensemblrs1057516213
gopubmedrs1057516213
geneviewrs1057516213
scholarrs1057516213
googlers1057516213
pharmgkbrs1057516213
gwascentralrs1057516213
openSNPrs1057516213
23andMers1057516213
23andMe allrs1057516213
SNPshotrs1057516213
SNPdbers1057516213
MSV3drs1057516213
GWAS Ctlgrs1057516213
Max Magnitude0
ClinVar
Risk rs1057516213(A;A)
Alt rs1057516213(A;A)
Reference Rs1057516213(-;-)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene DLD
CLNDBN Maple syrup urine disease, type 3
Reversed 0
HGVS NC_000007.13:g.107533709dupA
CLNSRC
CLNACC RCV000409901.1,