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rs200724875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(A;G) 3 Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position75745823
GeneACADM, DLSTP1
is asnp
is mentioned by
dbSNPrs200724875
dbSNP (classic)rs200724875
ClinGenrs200724875
ebirs200724875
HLIrs200724875
Exacrs200724875
Gnomadrs200724875
Varsomers200724875
LitVarrs200724875
Maprs200724875
PheGenIrs200724875
Biobankrs200724875
1000 genomesrs200724875
hgdprs200724875
ensemblrs200724875
geneviewrs200724875
scholarrs200724875
googlers200724875
pharmgkbrs200724875
gwascentralrs200724875
openSNPrs200724875
23andMers200724875
SNPshotrs200724875
SNPdbers200724875
MSV3drs200724875
GWAS Ctlgrs200724875
Max Magnitude5

aka c.617G>A (p.Arg206His)

23andMe name: i5012761


ClinVar
Risk Rs200724875(A;A)
Alt Rs200724875(A;A)
Reference Rs200724875(G;G)
Significance Pathogenic
Disease not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation info
Gene DLSTP1 ACADM
CLNDBN not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.76211508G>A
CLNSRC HGMD
CLNACC RCV000077893.3, RCV000180088.1,