Source: ALL
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: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894630
rs104894630
SCO1
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894729
rs104894729
TNNI3
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1060501436
rs1060501436
MYH7
2 0.925 0.040 14 23424815 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1064793206
rs1064793206
MYH7
2 0.925 0.040 14 23424993 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1157637439
rs1157637439
VARS2
4 0.882 0.120 6 30920187 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1199713333
rs1199713333
CACNA1C
2 0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908989
rs121908989
PRKAG2
4 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs121913625
rs121913625
MYH7
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913627
rs121913627
MYH7
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913634
rs121913634
MYH7
3 0.882 0.080 14 23425372 missense variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs121913652
rs121913652
MYH7 ; MHRT
3 0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
4 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121964857
rs121964857
TNNT2
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.010 1.000 1 2003 2003
dbSNP: rs121964858
rs121964858
TNNT2
6 0.807 0.120 1 201365244 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998