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rs587777387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777387(C;T)
Make rs587777387(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position73914835
GeneACTG2
is asnp
is mentioned by
dbSNPrs587777387
ebirs587777387
HLIrs587777387
Exacrs587777387
Varsomers587777387
Maprs587777387
PheGenIrs587777387
hapmaprs587777387
1000 genomesrs587777387
hgdprs587777387
ensemblrs587777387
gopubmedrs587777387
geneviewrs587777387
scholarrs587777387
googlers587777387
pharmgkbrs587777387
gwascentralrs587777387
openSNPrs587777387
23andMers587777387
23andMe allrs587777387
SNP Nexus

SNPshotrs587777387
SNPdbers587777387
MSV3drs587777387
GWAS Ctlgrs587777387
Max Magnitude0
ClinVar
Risk rs587777387(T;T)
Alt rs587777387(T;T)
Reference rs587777387(C;C)
Significance Pathogenic
Disease Visceral myopathy Inborn genetic diseases Chronic intestinal pseudoobstruction Megacystis
Variation info
Gene ACTG2
CLNDBN Visceral myopathy Inborn genetic diseases Chronic intestinal pseudoobstruction Megacystis
Reversed 0
HGVS NC_000002.11:g.74141962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119272.2, RCV000190747.1, RCV000210354.1,