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rs1057517214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517214(-;A)
Make rs1057517214(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107902349
GeneDLD
is asnp
is mentioned by
dbSNPrs1057517214
dbSNP (old)rs1057517214
ClinGenrs1057517214
ebirs1057517214
HLIrs1057517214
Exacrs1057517214
Gnomadrs1057517214
Varsomers1057517214
Maprs1057517214
PheGenIrs1057517214
Biobankrs1057517214
1000 genomesrs1057517214
hgdprs1057517214
ensemblrs1057517214
gopubmedrs1057517214
geneviewrs1057517214
scholarrs1057517214
googlers1057517214
pharmgkbrs1057517214
gwascentralrs1057517214
openSNPrs1057517214
23andMers1057517214
23andMe allrs1057517214
SNPshotrs1057517214
SNPdbers1057517214
MSV3drs1057517214
GWAS Ctlgrs1057517214
Max Magnitude0
ClinVar
Risk rs1057517214(A;A)
Alt rs1057517214(A;A)
Reference Rs1057517214(-;-)
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.107542794dupA
CLNSRC
CLNACC RCV000410633.1,