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: rs111862418
rs111862418
1 7 35204548 missense variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1345146178
rs1345146178
1 5 173233003 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1346496644
rs1346496644
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1390448535
rs1390448535
1 7 151007245 missense variant C/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs147405081
rs147405081
1 12 114366360 missense variant C/T snv 1.2E-03 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs2579433
rs2579433
1 2 130522115 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs375349466
rs375349466
1 4 166003545 missense variant A/G snv 8.0E-06 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs483352999
rs483352999
1 7 35202590 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs753669213
rs753669213
1 2 74498109 missense variant T/C snv 1.7E-04 1.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs768000961
rs768000961
1 4 121823490 missense variant G/A snv 8.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs104893900
rs104893900
2 1.000 5 173233011 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs137852952
rs137852952
2 1.000 0.080 4 166003471 missense variant T/C snv 2.1E-04 2.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs199715380
rs199715380
2 2 130597533 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs387906771
rs387906771
2 1.000 0.080 8 11750166 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs758277832
rs758277832
2 1.000 0.080 5 173233109 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs759067821
rs759067821
2 1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs762642
rs762642
2 1.000 0.040 14 53956335 splice region variant A/C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs879253754
rs879253754
2 1.000 5 173232792 frameshift variant T/- delins 0.700 0
dbSNP: rs104893907
rs104893907
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1393297693
rs1393297693
SRF
3 1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1555628863
rs1555628863
3 0.925 0.080 18 22172215 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs2228638
rs2228638
3 1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2298444
rs2298444
3 0.925 0.120 11 72221370 intron variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs3729753
rs3729753
3 1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03 0.010 1.000 1 2019 2019