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rs28730716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28730716(A;G)
Make rs28730716(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position115726998
GeneCASQ2
is asnp
is mentioned by
dbSNPrs28730716
ebirs28730716
HLIrs28730716
Exacrs28730716
Varsomers28730716
Maprs28730716
PheGenIrs28730716
hapmaprs28730716
1000 genomesrs28730716
hgdprs28730716
ensemblrs28730716
gopubmedrs28730716
geneviewrs28730716
scholarrs28730716
googlers28730716
pharmgkbrs28730716
gwascentralrs28730716
openSNPrs28730716
23andMers28730716
23andMe allrs28730716
SNP Nexus

SNPshotrs28730716
SNPdbers28730716
MSV3drs28730716
GWAS Ctlgrs28730716
GMAF0.02342
Max Magnitude0
ClinVar
Risk rs28730716(G;G)
Alt rs28730716(G;G)
Reference rs28730716(A;A)
Significance Other
Disease Cardiac arrhythmia not specified
Variation info
Gene CASQ2
CLNDBN Cardiac arrhythmia not specified
Reversed 1
HGVS NC_000001.10:g.116269619T>C
CLNSRC HGMD
CLNACC RCV000029424.1, RCV000037146.10, RCV000217394.1,



GET Evidence
CASQ2-H244R
aa_change His244Arg
aa_change_short H244R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0269567
summary