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rs752677472

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752677472(C;G)
Make rs752677472(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position120737404
GeneACADS
is asnp
is mentioned by
dbSNPrs752677472
ebirs752677472
HLIrs752677472
Exacrs752677472
Varsomers752677472
Maprs752677472
PheGenIrs752677472
hapmaprs752677472
1000 genomesrs752677472
hgdprs752677472
ensemblrs752677472
gopubmedrs752677472
geneviewrs752677472
scholarrs752677472
googlers752677472
pharmgkbrs752677472
gwascentralrs752677472
openSNPrs752677472
23andMers752677472
23andMe allrs752677472
SNP Nexus

SNPshotrs752677472
SNPdbers752677472
MSV3drs752677472
GWAS Ctlgrs752677472
Max Magnitude0
ClinVar
Risk rs752677472(G,T;G,T)
Alt rs752677472(G,T;G,T)
Reference rs752677472(C;C)
Significance Probable-Pathogenic
Disease Deficiency of butyryl-CoA dehydrogenase
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000012.11:g.121175207C>T
CLNSRC Counsyl
CLNACC RCV000169493.1,