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rs1057516698

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516698(C;T)
Make rs1057516698(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107893272
GeneDLD
is asnp
is mentioned by
dbSNPrs1057516698
dbSNP (old)rs1057516698
ClinGenrs1057516698
ebirs1057516698
HLIrs1057516698
Exacrs1057516698
Gnomadrs1057516698
Varsomers1057516698
Maprs1057516698
PheGenIrs1057516698
Biobankrs1057516698
1000 genomesrs1057516698
hgdprs1057516698
ensemblrs1057516698
gopubmedrs1057516698
geneviewrs1057516698
scholarrs1057516698
googlers1057516698
pharmgkbrs1057516698
gwascentralrs1057516698
openSNPrs1057516698
23andMers1057516698
23andMe allrs1057516698
SNPshotrs1057516698
SNPdbers1057516698
MSV3drs1057516698
GWAS Ctlgrs1057516698
Max Magnitude0
ClinVar
Risk rs1057516698(T;T)
Alt rs1057516698(T;T)
Reference Rs1057516698(C;C)
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.107533717C>T
CLNSRC
CLNACC RCV000411685.1,