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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398467 missense variant C/A;T snv 0.700 0
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: rs368972037
rs368972037
PRH1 ; PRR4 ; PRH1-PRR4
2 0.925 0.080 12 10882431 missense variant G/C snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs199474815
rs199474815
MYL2
2 0.925 0.080 12 110911081 missense variant T/A snv 0.010 1.000 1 2019 2019
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: rs587782965
rs587782965
MYL2
3 0.882 0.080 12 110914221 missense variant G/T snv 0.700 0
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.700 0
dbSNP: rs397516408
rs397516408
MYL2
2 0.925 0.080 12 110919117 missense variant T/C snv 0.700 0
dbSNP: rs730880944
rs730880944
MYL2
1 1.000 0.080 12 110919144 missense variant A/G snv 0.700 0
dbSNP: rs879254614
rs879254614
LDLR
2 0.925 0.120 19 11105555 frameshift variant -/T ins 0.010 1.000 1 2013 2013
dbSNP: rs794729138
rs794729138
PLN ; CEP85L
1 1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06 0.700 0
dbSNP: rs193922649
rs193922649
LAMP2
2 0.925 0.160 X 120449063 frameshift variant T/- del 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: rs121434594
rs121434594
RAF1
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 2 2007 2007
dbSNP: rs869025501
rs869025501
RAF1
1 1.000 0.080 3 12604191 missense variant G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs727505017
rs727505017
RAF1
3 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 0
dbSNP: rs1554401561
rs1554401561
FLNC ; FLNC-AS1
1 1.000 0.080 7 128855243 missense variant G/C snv 0.700 0
dbSNP: rs869025431
rs869025431
FHL1
2 0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06 0.700 0
dbSNP: rs4863687
rs4863687
MAML3
2 0.925 0.120 4 139757127 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs199472948
rs199472948
KCNH2
1 1.000 0.080 7 150951531 missense variant C/T snv 0.700 0
dbSNP: rs267606977
rs267606977
PRKAG2
4 0.851 0.120 7 151560613 missense variant T/C snv 0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
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: rs267607581
rs267607581
LMNA
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 0
dbSNP: rs6577641
rs6577641
SATB1 ; TBC1D5
1 1.000 0.080 3 18356357 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014