Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1284689627
rs1284689627
1 1.000 0.040 2 178550125 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs267607155
rs267607155
TTN
3 0.925 0.040 2 178782980 missense variant A/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs267607158
rs267607158
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs879217756
rs879217756
TTN
1 1.000 0.040 2 178784108 missense variant C/T snv 0.010 1.000 1 2016 2016