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rs78001248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78001248(C;T)
Make rs78001248(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position73913565
GeneACTG2
is asnp
is mentioned by
dbSNPrs78001248
ebirs78001248
HLIrs78001248
Exacrs78001248
Varsomers78001248
Maprs78001248
PheGenIrs78001248
hapmaprs78001248
1000 genomesrs78001248
hgdprs78001248
ensemblrs78001248
gopubmedrs78001248
geneviewrs78001248
scholarrs78001248
googlers78001248
pharmgkbrs78001248
gwascentralrs78001248
openSNPrs78001248
23andMers78001248
23andMe allrs78001248
SNP Nexus

SNPshotrs78001248
SNPdbers78001248
MSV3drs78001248
GWAS Ctlgrs78001248
Max Magnitude0
ClinVar
Risk rs78001248(T;T)
Alt rs78001248(T;T)
Reference rs78001248(C;C)
Significance Pathogenic
Disease Visceral myopathy
Variation info
Gene ACTG2
CLNDBN Visceral myopathy
Reversed 0
HGVS NC_000002.11:g.74140692C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119269.2,