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rs786204631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204631(C;C)
Make rs786204631(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position75761153
GeneACADM
is asnp
is mentioned by
dbSNPrs786204631
dbSNP (classic)rs786204631
ClinGenrs786204631
ebirs786204631
HLIrs786204631
Exacrs786204631
Gnomadrs786204631
Varsomers786204631
LitVarrs786204631
Maprs786204631
PheGenIrs786204631
Biobankrs786204631
1000 genomesrs786204631
hgdprs786204631
ensemblrs786204631
geneviewrs786204631
scholarrs786204631
googlers786204631
pharmgkbrs786204631
gwascentralrs786204631
openSNPrs786204631
23andMers786204631
SNPshotrs786204631
SNPdbers786204631
MSV3drs786204631
GWAS Ctlgrs786204631
Max Magnitude0
ClinVar
Risk rs786204631(C;C)
Alt rs786204631(C;C)
Reference Rs786204631(T;T)
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.76226838T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000169406.1,