Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201907325
rs201907325
1.000 0.080 19 49182608 missense variant G/A;T snv 4.7E-04; 4.0E-06
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 3 2009 2012
dbSNP: rs267607142
rs267607142
1.000 0.080 19 49157885 missense variant G/A snv 7.0E-06
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 3 2009 2012
dbSNP: rs387907216
rs387907216
1.000 0.080 19 49168301 missense variant C/T snv 1.2E-05
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 3 2009 2012
dbSNP: rs172149856
rs172149856
0.925 0.080 19 49188641 missense variant G/A snv 5.1E-04 4.3E-04
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 0
dbSNP: rs172151858
rs172151858
1.000 0.080 19 49200395 missense variant A/G snv
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 0
dbSNP: rs200038418
rs200038418
1.000 0.080 19 49196760 missense variant G/A;T snv 1.0E-03; 2.5E-05
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 0
dbSNP: rs172146854
rs172146854
1.000 0.080 19 49168042 missense variant G/C snv 4.4E-05
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs172147855
rs172147855
1.000 0.080 19 49171597 missense variant A/G snv 1.9E-04 3.5E-05
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs172150857
rs172150857
1.000 0.080 19 49196597 missense variant T/C snv
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs172152859
rs172152859
1.000 0.080 19 49200740 missense variant C/T snv 4.0E-06
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs200132598
rs200132598
1.000 0.080 19 49172109 splice donor variant G/A snv 3.2E-05 3.5E-05
Progressive Familial Heart Block, Type Ib
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs71352737
rs71352737
19 49182889 stop gained G/A snv 1.5E-03 1.6E-03
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0