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rs1057517679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517679(A;G)
Make rs1057517679(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position105449391
GenePPA2
is asnp
is mentioned by
dbSNPrs1057517679
dbSNP (old)rs1057517679
ClinGenrs1057517679
ebirs1057517679
HLIrs1057517679
Exacrs1057517679
Gnomadrs1057517679
Varsomers1057517679
LitVarrs1057517679
Maprs1057517679
PheGenIrs1057517679
Biobankrs1057517679
1000 genomesrs1057517679
hgdprs1057517679
ensemblrs1057517679
gopubmedrs1057517679
geneviewrs1057517679
scholarrs1057517679
googlers1057517679
pharmgkbrs1057517679
gwascentralrs1057517679
openSNPrs1057517679
23andMers1057517679
23andMe allrs1057517679
SNPshotrs1057517679
SNPdbers1057517679
MSV3drs1057517679
GWAS Ctlgrs1057517679
Max Magnitude0
ClinVar
Risk rs1057517679(G;G)
Alt rs1057517679(G;G)
Reference Rs1057517679(A;A)
Significance Pathogenic
Disease Sudden cardiac failure
Variation info
Gene PPA2
CLNDBN Sudden cardiac failure, infantile
Reversed 1
HGVS NC_000004.11:g.106370548T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412577.1,