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: rs10927875
rs10927875
3 1.000 0.036 1 15972817 intron variant C/T snp 0.28 0.800 1 2012 2012
dbSNP: rs2234962
rs2234962
2 1.000 0.036 10 119670121 stop lost T/C snp 0.17 0.15 0.800 1 2012 2012
dbSNP: rs45546039
rs45546039
10 0.769 0.107 3 38613781 missense variant C/A,T snp 4.1E-06 0.710 1.000 9 2010 2013
dbSNP: rs74315380
rs74315380
4 0.878 0.071 1 201364366 missense variant G/A,C snp 0.710 1.000 8 2004 2013
dbSNP: rs267607554
rs267607554
1 1 156135925 stop gained C/T snp 0.710 1.000 7 2007 2014
dbSNP: rs59270054
rs59270054
2 1.000 0.071 1 156115162 missense variant G/A,C snp 0.710 1.000 7 2005 2013
dbSNP: rs28933091
rs28933091
3 0.923 0.143 1 156134474 missense variant C/A,G snp 0.710 1.000 6 1999 2013
dbSNP: rs111033560
rs111033560
9 0.784 0.071 6 118559037 stop gained T/G snp 1.6E-05 0.710 1.000 2 2003 2014
dbSNP: rs58013325
rs58013325
3 1.000 0.071 1 156137150 frameshift variant C/CC in-del 0.710 1.000 2 2005 2014
dbSNP: rs74315379
rs74315379
7 0.821 0.071 1 201364336 missense variant G/A,T snp 1.2E-04 0.710 1.000 1 2004 2004
dbSNP: rs397517889
rs397517889
4 0.878 0.143 1 156136093 missense variant C/T snp 0.700 15 2000 2015
dbSNP: rs45578238
rs45578238
4 0.878 0.071 1 201361971 inframe deletion ATCT/A in-del 0.700 14 2000 2014
dbSNP: rs45544633
rs45544633
2 1.000 0.036 14 23417174 missense variant G/A snp 0.700 12 2006 2015
dbSNP: rs111033559
rs111033559
3 0.923 0.036 6 118558946 missense variant C/T snp 0.700 10 2003 2015
dbSNP: rs397516784
rs397516784
4 0.923 0.071 6 118558961 inframe deletion AAGA/A in-del 0.700 8 2006 2013
dbSNP: rs61444459
rs61444459
4 0.878 0.143 1 156137667 missense variant G/A,C snp 0.700 7 2004 2015
dbSNP: rs121913642
rs121913642
3 0.923 0.036 14 23427879 missense variant A/G snp 0.700 6 2000 2018
dbSNP: rs199473161
rs199473161
2 1.000 0.071 3 38586038 missense variant G/A snp 0.700 6 2005 2015
dbSNP: rs267607002
rs267607002
2 1.000 0.036 10 110812303 stop gained C/A,T snp 0.700 6 2009 2016
dbSNP: rs60682848
rs60682848
5 0.846 0.143 1 156134838 stop gained C/T snp 0.700 6 2001 2013
dbSNP: rs61195471
rs61195471
5 0.846 0.107 1 156134496 missense variant G/A snp 0.700 6 2001 2013
dbSNP: rs727503253
rs727503253
2 1.000 0.036 14 23424119 missense variant G/A snp 4.0E-06 0.700 6 2011 2017
dbSNP: rs727503512
rs727503512
2 1.000 0.036 1 201363349 missense variant G/A,C,T snp 4.0E-06 0.700 6 2012 2014
dbSNP: rs727504452
rs727504452
TTN
1 2 178702186 frameshift variant AGCTCTGCCGT/A in-del 0.700 6 2002 2013
dbSNP: rs267607003
rs267607003
3 0.923 0.036 10 110812310 missense variant C/A,G,T snp 0.700 5 2009 2013