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rs1057519311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519311(C;T)
Make rs1057519311(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position229432365
GeneACTA1
is asnp
is mentioned by
dbSNPrs1057519311
dbSNP (old)rs1057519311
ClinGenrs1057519311
ebirs1057519311
HLIrs1057519311
Exacrs1057519311
Gnomadrs1057519311
Varsomers1057519311
Maprs1057519311
PheGenIrs1057519311
Biobankrs1057519311
1000 genomesrs1057519311
hgdprs1057519311
ensemblrs1057519311
gopubmedrs1057519311
geneviewrs1057519311
scholarrs1057519311
googlers1057519311
pharmgkbrs1057519311
gwascentralrs1057519311
openSNPrs1057519311
23andMers1057519311
23andMe allrs1057519311
SNPshotrs1057519311
SNPdbers1057519311
MSV3drs1057519311
GWAS Ctlgrs1057519311
Max Magnitude0
ClinVar
Risk rs1057519311(T;T)
Alt rs1057519311(T;T)
Reference Rs1057519311(C;C)
Significance Probable-Pathogenic
Disease Nemaline myopathy 3 not specified
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3 not specified
Reversed 1
HGVS NC_000001.10:g.229568112G>A; NC_000001.10:g.229568112G>C
CLNSRC
CLNACC RCV000415638.1, RCV000493914.1,