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: rs74315356
rs74315356
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2006 2008
dbSNP: rs762472005
rs762472005
5 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs121908683
rs121908683
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1239756674
rs1239756674
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs1555727942
rs1555727942
3 0.925 0.160 19 15180807 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs3135500
rs3135500
5 0.851 0.160 16 50732975 3 prime UTR variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs45467995
rs45467995
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs63750444
rs63750444
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs757199733
rs757199733
TTN
2 2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs758414077
rs758414077
FTL
1 19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs761807915
rs761807915
4 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs542171324
rs542171324
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs63750522
rs63750522
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2942168
rs2942168
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs63751165
rs63751165
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.020 1.000 2 2004 2005
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011