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rs587777385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777385(C;T)
Make rs587777385(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position73901429
GeneACTG2
is asnp
is mentioned by
dbSNPrs587777385
ebirs587777385
HLIrs587777385
Exacrs587777385
Varsomers587777385
Maprs587777385
PheGenIrs587777385
hapmaprs587777385
1000 genomesrs587777385
hgdprs587777385
ensemblrs587777385
gopubmedrs587777385
geneviewrs587777385
scholarrs587777385
googlers587777385
pharmgkbrs587777385
gwascentralrs587777385
openSNPrs587777385
23andMers587777385
23andMe allrs587777385
SNP Nexus

SNPshotrs587777385
SNPdbers587777385
MSV3drs587777385
GWAS Ctlgrs587777385
Max Magnitude0
ClinVar
Risk rs587777385(T;T)
Alt rs587777385(T;T)
Reference rs587777385(C;C)
Significance Pathogenic
Disease Visceral myopathy
Variation info
Gene ACTG2
CLNDBN Visceral myopathy
Reversed 0
HGVS NC_000002.11:g.74128556C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119268.2,