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: 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
dbSNP: rs1352376969
rs1352376969
MYBPC3
3 0.882 0.080 11 47341155 missense variant G/A;C snv 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs143697995
rs143697995
MRPL44
3 0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs1467607281
rs1467607281
OPA1
3 0.882 0.040 3 193645736 missense variant T/C snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs148395034
rs148395034
TRIM63
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs1489940065
rs1489940065
MYH7
2 0.925 0.040 14 23433188 missense variant G/A snv 2.8E-05 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs199476320
rs199476320
TPM1
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs199476321
rs199476321
TPM1
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019