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rs730880256

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880256(G;T)
Make rs730880256(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position73909131
GeneACTG2
is asnp
is mentioned by
dbSNPrs730880256
ebirs730880256
HLIrs730880256
Exacrs730880256
Varsomers730880256
Maprs730880256
PheGenIrs730880256
hapmaprs730880256
1000 genomesrs730880256
hgdprs730880256
ensemblrs730880256
gopubmedrs730880256
geneviewrs730880256
scholarrs730880256
googlers730880256
pharmgkbrs730880256
gwascentralrs730880256
openSNPrs730880256
23andMers730880256
23andMe allrs730880256
SNP Nexus

SNPshotrs730880256
SNPdbers730880256
MSV3drs730880256
GWAS Ctlgrs730880256
Max Magnitude0
ClinVar
Risk rs730880256(T;T)
Alt rs730880256(T;T)
Reference rs730880256(G;G)
Significance Probable-Pathogenic
Disease Visceral myopathy
Variation info
Gene ACTG2
CLNDBN Visceral myopathy
Reversed 0
HGVS NC_000002.11:g.74136258G>T
CLNSRC
CLNACC RCV000157596.1,