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rs587777383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777383(A;A)
Make rs587777383(A;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position73909130
GeneACTG2
is asnp
is mentioned by
dbSNPrs587777383
ebirs587777383
HLIrs587777383
Exacrs587777383
Varsomers587777383
Maprs587777383
PheGenIrs587777383
hapmaprs587777383
1000 genomesrs587777383
hgdprs587777383
ensemblrs587777383
gopubmedrs587777383
geneviewrs587777383
scholarrs587777383
googlers587777383
pharmgkbrs587777383
gwascentralrs587777383
openSNPrs587777383
23andMers587777383
23andMe allrs587777383
SNP Nexus

SNPshotrs587777383
SNPdbers587777383
MSV3drs587777383
GWAS Ctlgrs587777383
Max Magnitude0
ClinVar
Risk rs587777383(A;A)
Alt rs587777383(A;A)
Reference rs587777383(C;C)
Significance Pathogenic
Disease Visceral myopathy Chronic intestinal pseudoobstruction
Variation info
Gene ACTG2
CLNDBN Visceral myopathy Chronic intestinal pseudoobstruction
Reversed 0
HGVS NC_000002.11:g.74136257C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119266.2, RCV000210361.1,