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rs1057517380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517380(-;-)
Make rs1057517380(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107893242
GeneDLD
is asnp
is mentioned by
dbSNPrs1057517380
dbSNP (old)rs1057517380
ClinGenrs1057517380
ebirs1057517380
HLIrs1057517380
Exacrs1057517380
Gnomadrs1057517380
Varsomers1057517380
Maprs1057517380
PheGenIrs1057517380
Biobankrs1057517380
1000 genomesrs1057517380
hgdprs1057517380
ensemblrs1057517380
gopubmedrs1057517380
geneviewrs1057517380
scholarrs1057517380
googlers1057517380
pharmgkbrs1057517380
gwascentralrs1057517380
openSNPrs1057517380
23andMers1057517380
23andMe allrs1057517380
SNPshotrs1057517380
SNPdbers1057517380
MSV3drs1057517380
GWAS Ctlgrs1057517380
Max Magnitude0
ClinVar
Risk rs1057517380(-;-)
Alt rs1057517380(-;-)
Reference Rs1057517380(T;T)
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.107533687delT
CLNSRC
CLNACC RCV000410571.1,