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rs1057516703

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516703(A;A)
Make rs1057516703(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40405972
GeneIVD
is asnp
is mentioned by
dbSNPrs1057516703
dbSNP (old)rs1057516703
ClinGenrs1057516703
ebirs1057516703
HLIrs1057516703
Exacrs1057516703
Gnomadrs1057516703
Varsomers1057516703
Maprs1057516703
PheGenIrs1057516703
Biobankrs1057516703
1000 genomesrs1057516703
hgdprs1057516703
ensemblrs1057516703
gopubmedrs1057516703
geneviewrs1057516703
scholarrs1057516703
googlers1057516703
pharmgkbrs1057516703
gwascentralrs1057516703
openSNPrs1057516703
23andMers1057516703
23andMe allrs1057516703
SNPshotrs1057516703
SNPdbers1057516703
MSV3drs1057516703
GWAS Ctlgrs1057516703
Max Magnitude0
ClinVar
Risk rs1057516703(A;A)
Alt rs1057516703(A;A)
Reference Rs1057516703(G;G)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40698173G>A
CLNSRC
CLNACC RCV000412035.1,