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: rs1563145763
rs1563145763
AKAP9
1 1.000 0.120 7 92099838 stop gained G/A snv 0.700 0
dbSNP: rs796052200
rs796052200
AKAP9
1 1.000 0.120 7 92045186 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs796052199
rs796052199
AKAP9
1 1.000 0.120 7 92002212 missense variant T/A snv 0.700 0
dbSNP: rs199744595
rs199744595
CALM1
2 0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1085307479
rs1085307479
CALM1
1 1.000 0.120 14 90404691 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs730882252
rs730882252
CALM1
3 0.882 0.120 14 90404482 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs779760381
rs779760381
SLC2A5
1 1.000 0.120 1 9039877 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
4 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.020 0.500 2 2013 2017
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
2 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
dbSNP: rs796052171
rs796052171
CAV3 ; SSUH2
1 1.000 0.120 3 8733913 missense variant A/T snv 0.700 0
dbSNP: rs778914298
rs778914298
CAV3 ; SSUH2
1 1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05 0.700 0
dbSNP: rs1060502318
rs1060502318
CAV3 ; SSUH2
1 1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06 0.700 0
dbSNP: rs1299120831
rs1299120831
SNAP91
1 1.000 0.120 6 83661523 missense variant T/C snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs773204795
rs773204795
TECRL
3 0.882 0.120 4 64309896 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
5 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 0
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11551462
rs11551462
CALM2
2 0.925 0.120 2 47160802 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1287693879
rs1287693879
DNAH8
2 1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs201002736
rs201002736
SCN5A
1 1.000 0.120 3 38614031 stop gained G/A;T snv 8.3E-05; 8.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs41276525
rs41276525
SCN5A
1 1.000 0.120 3 38613799 missense variant G/A snv 6.8E-04 6.6E-04 0.010 1.000 1 2007 2007