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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 1997 1997
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 1997 1997
dbSNP: rs36212066
rs36212066
MYBPC3
3 0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04 0.700 1.000 4 2003 2014
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.700 0
dbSNP: rs121964857
rs121964857
TNNT2
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.700 0
dbSNP: rs2069544
rs2069544
MYH7
3 0.882 0.080 14 23425371 missense variant G/A;C;T snv 2.9E-04 0.700 1.000 3 2003 2012
dbSNP: rs573916965
rs573916965
MYBPC3
5 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.700 0
dbSNP: rs143139258
rs143139258
MYL2
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 0.700 0
dbSNP: rs730880565
rs730880565
MYBPC3
1 1.000 0.080 11 47337722 missense variant G/A snv 1.4E-04 5.6E-05 0.700 0
dbSNP: rs199728019
rs199728019
MYBPC3
1 1.000 0.080 11 47341995 missense variant C/T snv 1.2E-04 7.0E-05 0.700 0
dbSNP: rs778568339
rs778568339
TCAP
2 0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05 0.700 0
dbSNP: rs727503167
rs727503167
MYBPC3
2 0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05 0.700 1.000 2 2003 2009
dbSNP: rs371061770
rs371061770
MYBPC3
3 0.882 0.080 11 47333610 missense variant G/A;C snv 6.6E-05 4.2E-05 0.700 0
dbSNP: rs397516050
rs397516050
MYBPC3
2 0.925 0.080 11 47350077 missense variant C/T snv 6.5E-05 1.0E-04 0.700 0
dbSNP: rs587782962
rs587782962
MYH7
2 0.925 0.080 14 23422267 missense variant C/T snv 6.4E-05 7.7E-05 0.700 1.000 7 2004 2017
dbSNP: rs56851164
rs56851164
LMNA
1 1.000 0.080 1 156135940 missense variant T/A snv 5.6E-05 8.4E-05 0.700 1.000 3 2006 2014
dbSNP: rs727504235
rs727504235
MYBPC3
2 0.925 0.080 11 47333742 missense variant C/T snv 5.5E-05 3.5E-05 0.700 1.000 1 2002 2002
dbSNP: rs375675796
rs375675796
MYBPC3
2 0.925 0.080 11 47337564 missense variant C/A;G;T snv 4.8E-05 0.700 0
dbSNP: rs727504953
rs727504953
LAMP2
2 0.925 0.160 X 120455477 missense variant C/G;T snv 5.5E-06; 4.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs368861241
rs368861241
TNNI3
4 0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06 0.720 1.000 15 1997 2017
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 17 1997 2017
dbSNP: rs727503192
rs727503192
MYBPC3
2 0.925 0.080 11 47339718 frameshift variant AG/C;T delins 4.0E-05 0.700 1.000 3 2010 2017
dbSNP: rs375882485
rs375882485
MYBPC3
5 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.700 1.000 6 1998 2013
dbSNP: rs397516178
rs397516178
MYH7
1 1.000 0.080 14 23422291 missense variant C/A;G;T snv 1.6E-05; 3.6E-05 0.700 1.000 7 2008 2017
dbSNP: rs201078659
rs201078659
MYBPC3
2 0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05 0.700 1.000 2 2015 2017