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: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
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: rs376477806
rs376477806
MYBPC1 ; LOC105369937
2 0.925 0.040 12 101648107 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs778924100
rs778924100
TXNRD1
2 0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs759589565
rs759589565
TXNRD1
2 0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs104894630
rs104894630
SCO1
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs587777220
rs587777220
SCO1
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.020 0.500 2 2009 2013
dbSNP: rs397516406
rs397516406
MYL2
2 0.925 0.040 12 110911093 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.030 1.000 3 2019 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.030 1.000 3 2019 2019
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs397507550
rs397507550
PTPN11
3 0.882 0.160 12 112489106 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs746536347
rs746536347
ATAD3B
3 0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 0.010 1.000 1 2016 2016
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: rs267606979
rs267606979
PRKAG2
3 0.882 0.080 7 151560560 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs121908991
rs121908991
PRKAG2
6 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
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: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs28933405
rs28933405
TTN
3 0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2005 2005