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rs1057516046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516046(A;A)
Make rs1057516046(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position73913646
GeneACTG2
is asnp
is mentioned by
dbSNPrs1057516046
dbSNP (old)rs1057516046
ClinGenrs1057516046
ebirs1057516046
HLIrs1057516046
Exacrs1057516046
Gnomadrs1057516046
Varsomers1057516046
Maprs1057516046
PheGenIrs1057516046
Biobankrs1057516046
1000 genomesrs1057516046
hgdprs1057516046
ensemblrs1057516046
gopubmedrs1057516046
geneviewrs1057516046
scholarrs1057516046
googlers1057516046
pharmgkbrs1057516046
gwascentralrs1057516046
openSNPrs1057516046
23andMers1057516046
23andMe allrs1057516046
SNPshotrs1057516046
SNPdbers1057516046
MSV3drs1057516046
GWAS Ctlgrs1057516046
Max Magnitude0
ClinVar
Risk rs1057516046(A;A)
Alt rs1057516046(A;A)
Reference Rs1057516046(G;G)
Significance Pathogenic
Disease Visceral myopathy
Variation info
Gene ACTG2
CLNDBN Visceral myopathy
Reversed 0
HGVS NC_000002.11:g.74140773G>A
CLNSRC
CLNACC RCV000408625.1,