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rs1057517680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517680(G;T)
Make rs1057517680(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position105449353
GenePPA2
is asnp
is mentioned by
dbSNPrs1057517680
dbSNP (classic)rs1057517680
ClinGenrs1057517680
ebirs1057517680
HLIrs1057517680
Exacrs1057517680
Gnomadrs1057517680
Varsomers1057517680
LitVarrs1057517680
Maprs1057517680
PheGenIrs1057517680
Biobankrs1057517680
1000 genomesrs1057517680
hgdprs1057517680
ensemblrs1057517680
geneviewrs1057517680
scholarrs1057517680
googlers1057517680
pharmgkbrs1057517680
gwascentralrs1057517680
openSNPrs1057517680
23andMers1057517680
23andMe allrs1057517680
SNPshotrs1057517680
SNPdbers1057517680
MSV3drs1057517680
GWAS Ctlgrs1057517680
Max Magnitude0
ClinVar
Risk rs1057517680(T;T)
Alt rs1057517680(T;T)
Reference Rs1057517680(G;G)
Significance Pathogenic
Disease Sudden cardiac failure
Variation info
Gene PPA2
CLNDBN Sudden cardiac failure, infantile
Reversed 1
HGVS NC_000004.11:g.106370510C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412661.1,