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rs111257462

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111257462(C;C)
Make rs111257462(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107891290
GeneDLD
is asnp
is mentioned by
dbSNPrs111257462
dbSNP (old)rs111257462
ClinGenrs111257462
ebirs111257462
HLIrs111257462
Exacrs111257462
Gnomadrs111257462
Varsomers111257462
Maprs111257462
PheGenIrs111257462
Biobankrs111257462
1000 genomesrs111257462
hgdprs111257462
ensemblrs111257462
gopubmedrs111257462
geneviewrs111257462
scholarrs111257462
googlers111257462
pharmgkbrs111257462
gwascentralrs111257462
openSNPrs111257462
23andMers111257462
23andMe allrs111257462
SNPshotrs111257462
SNPdbers111257462
MSV3drs111257462
GWAS Ctlgrs111257462
Max Magnitude0
ClinVar
Risk rs111257462(A;A) rs111257462(C;C)
Alt rs111257462(A;A) rs111257462(C;C)
Reference Rs111257462(G;G)
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.107531735G>A
CLNSRC
CLNACC RCV000411628.1,