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rs587777384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777384(G;T)
Make rs587777384(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position73913566
GeneACTG2
is asnp
is mentioned by
dbSNPrs587777384
ebirs587777384
HLIrs587777384
Exacrs587777384
Varsomers587777384
Maprs587777384
PheGenIrs587777384
hapmaprs587777384
1000 genomesrs587777384
hgdprs587777384
ensemblrs587777384
gopubmedrs587777384
geneviewrs587777384
scholarrs587777384
googlers587777384
pharmgkbrs587777384
gwascentralrs587777384
openSNPrs587777384
23andMers587777384
23andMe allrs587777384
SNP Nexus

SNPshotrs587777384
SNPdbers587777384
MSV3drs587777384
GWAS Ctlgrs587777384
Max Magnitude0
ClinVar
Risk rs587777384(A,T;A,T)
Alt rs587777384(A,T;A,T)
Reference rs587777384(G;G)
Significance Pathogenic
Disease Visceral myopathy Inborn genetic diseases
Variation info
Gene ACTG2
CLNDBN Visceral myopathy Inborn genetic diseases
Reversed 0
HGVS NC_000002.11:g.74140693G>A; NC_000002.11:g.74140693G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119270.2, RCV000190653.1, RCV000119267.3,