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rs1057516778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516778(A;G)
Make rs1057516778(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75724788
GeneACADM, SLC44A5
is asnp
is mentioned by
dbSNPrs1057516778
dbSNP (classic)rs1057516778
ClinGenrs1057516778
ebirs1057516778
HLIrs1057516778
Exacrs1057516778
Gnomadrs1057516778
Varsomers1057516778
LitVarrs1057516778
Maprs1057516778
PheGenIrs1057516778
Biobankrs1057516778
1000 genomesrs1057516778
hgdprs1057516778
ensemblrs1057516778
geneviewrs1057516778
scholarrs1057516778
googlers1057516778
pharmgkbrs1057516778
gwascentralrs1057516778
openSNPrs1057516778
23andMers1057516778
SNPshotrs1057516778
SNPdbers1057516778
MSV3drs1057516778
GWAS Ctlgrs1057516778
Max Magnitude0
ClinVar
Risk rs1057516778(G;G)
Alt rs1057516778(G;G)
Reference Rs1057516778(A;A)
Significance Probable-Pathogenic
Disease Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation info
Gene ACADM
CLNDBN Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.76190473A>G
CLNSRC
CLNACC RCV000411404.1,