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rs587777870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs587777870(AA;AA)
Make rs587777870(AA;GC)
ReferenceGRCh38 38.1/142
Chromosome2
Position73916584
GeneACTG2
is asnp
is mentioned by
dbSNPrs587777870
ebirs587777870
HLIrs587777870
Exacrs587777870
Varsomers587777870
Maprs587777870
PheGenIrs587777870
hapmaprs587777870
1000 genomesrs587777870
hgdprs587777870
ensemblrs587777870
gopubmedrs587777870
geneviewrs587777870
scholarrs587777870
googlers587777870
pharmgkbrs587777870
gwascentralrs587777870
openSNPrs587777870
23andMers587777870
23andMe allrs587777870
SNP Nexus

SNPshotrs587777870
SNPdbers587777870
MSV3drs587777870
GWAS Ctlgrs587777870
Max Magnitude0
ClinVar
Risk rs587777870(AA;AA)
Alt rs587777870(AA;AA)
Reference rs587777870(GC;GC)
Significance Pathogenic
Disease Visceral myopathy
Variation info
Gene ACTG2
CLNDBN Visceral myopathy
Reversed 0
HGVS NC_000002.11:g.74143711_74143712delGCinsAA
CLNSRC ClinVar
CLNACC RCV000144704.1,