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rs148260275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs148260275(C;C)
Make rs148260275(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75740112
GeneACADM
is asnp
is mentioned by
dbSNPrs148260275
dbSNP (classic)rs148260275
ClinGenrs148260275
ebirs148260275
HLIrs148260275
Exacrs148260275
Gnomadrs148260275
Varsomers148260275
LitVarrs148260275
Maprs148260275
PheGenIrs148260275
Biobankrs148260275
1000 genomesrs148260275
hgdprs148260275
ensemblrs148260275
geneviewrs148260275
scholarrs148260275
googlers148260275
pharmgkbrs148260275
gwascentralrs148260275
openSNPrs148260275
23andMers148260275
23andMe allrs148260275
SNPshotrs148260275
SNPdbers148260275
MSV3drs148260275
GWAS Ctlgrs148260275
Max Magnitude0
ClinVar
Risk rs148260275(C;C)
Alt rs148260275(C;C)
Reference Rs148260275(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.76205797T>C
CLNSRC
CLNACC RCV000411016.1,