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rs786204522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
Make rs786204522(-;TAGAATGAGTTAC)
Make rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position75761187
GeneACADM
is asnp
is mentioned by
dbSNPrs786204522
dbSNP (classic)rs786204522
ClinGenrs786204522
ebirs786204522
HLIrs786204522
Exacrs786204522
Gnomadrs786204522
Varsomers786204522
LitVarrs786204522
Maprs786204522
PheGenIrs786204522
Biobankrs786204522
1000 genomesrs786204522
hgdprs786204522
ensemblrs786204522
geneviewrs786204522
scholarrs786204522
googlers786204522
pharmgkbrs786204522
gwascentralrs786204522
openSNPrs786204522
23andMers786204522
23andMe allrs786204522
SNPshotrs786204522
SNPdbers786204522
MSV3drs786204522
GWAS Ctlgrs786204522
Max Magnitude0

c.999_1011dup (p.Gln338Terfs)

ClinVar
Risk rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC)
Alt rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC)
Reference Rs786204522(-;-)
Significance Other
Disease Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Variation info
Gene ACADM
CLNDBN Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000001.10:g.76226860_76226872dupTAGAATGAGTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003770.5, RCV000478348.1,