Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912705
rs121912705
ANK2
1.000 0.080 4 113367764 missense variant C/A snv 6.3E-04 7.5E-04
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.800 1.000 3 2003 2007
dbSNP: rs121912706
rs121912706
ANK2
0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.700 1.000 3 2003 2007
dbSNP: rs35530544
rs35530544
ANK2
1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.700 1.000 3 2003 2007
dbSNP: rs45454496
rs45454496
ANK2
1.000 0.080 4 113373381 missense variant G/A snv 2.8E-03 2.3E-03
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.700 1.000 3 2003 2007