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rs1057517354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AATC;AATC) 0 common in clinvar
Make rs1057517354(-;-)
Make rs1057517354(-;TCAA)
Make rs1057517354(TCAA;TCAA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107919249
GeneDLD
is asnp
is mentioned by
dbSNPrs1057517354
dbSNP (classic)rs1057517354
ClinGenrs1057517354
ebirs1057517354
HLIrs1057517354
Exacrs1057517354
Gnomadrs1057517354
Varsomers1057517354
LitVarrs1057517354
Maprs1057517354
PheGenIrs1057517354
Biobankrs1057517354
1000 genomesrs1057517354
hgdprs1057517354
ensemblrs1057517354
geneviewrs1057517354
scholarrs1057517354
googlers1057517354
pharmgkbrs1057517354
gwascentralrs1057517354
openSNPrs1057517354
23andMers1057517354
23andMe allrs1057517354
SNPshotrs1057517354
SNPdbers1057517354
MSV3drs1057517354
GWAS Ctlgrs1057517354
Max Magnitude0
ClinVar
Risk rs1057517354(-;-)
Alt rs1057517354(-;-)
Reference Rs1057517354(AATC;AATC)
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.107559694_107559697delTCAA
CLNSRC
CLNACC RCV000411445.1,