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rs1057517678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517678(A;C)
Make rs1057517678(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position105386625
GenePPA2
is asnp
is mentioned by
dbSNPrs1057517678
dbSNP (old)rs1057517678
ClinGenrs1057517678
ebirs1057517678
HLIrs1057517678
Exacrs1057517678
Gnomadrs1057517678
Varsomers1057517678
LitVarrs1057517678
Maprs1057517678
PheGenIrs1057517678
Biobankrs1057517678
1000 genomesrs1057517678
hgdprs1057517678
ensemblrs1057517678
gopubmedrs1057517678
geneviewrs1057517678
scholarrs1057517678
googlers1057517678
pharmgkbrs1057517678
gwascentralrs1057517678
openSNPrs1057517678
23andMers1057517678
23andMe allrs1057517678
SNPshotrs1057517678
SNPdbers1057517678
MSV3drs1057517678
GWAS Ctlgrs1057517678
Max Magnitude0
ClinVar
Risk rs1057517678(C;C)
Alt rs1057517678(C;C)
Reference Rs1057517678(A;A)
Significance Pathogenic
Disease Sudden cardiac failure
Variation info
Gene PPA2
CLNDBN Sudden cardiac failure, infantile
Reversed 1
HGVS NC_000004.11:g.106307782T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000412573.1,