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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs1060502823
rs1060502823
ACTC1 ; LOC101928174
1 1.000 0.080 15 34794747 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs193922681
rs193922681
ACTC1 ; LOC101928174
1 1.000 0.080 15 34794742 missense variant A/G snv 0.700 0
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: 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: rs121434467
rs121434467
COX1 ; ND1 ; ND2 ; TRNI
2 0.925 0.200 MT 4295 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434470
rs121434470
COX1 ; ND1 ; ND2 ; TRNI
1 1.000 0.080 MT 4300 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1 1.000 0.080 MT 9997 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
dbSNP: rs1391541448
rs1391541448
DNAH8
1 1.000 0.080 6 38729980 missense variant G/A snv 0.020 1.000 2 2002 2003
dbSNP: rs1240681880
rs1240681880
DNAH8
3 0.882 0.160 6 38722870 missense variant G/A snv 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs374691452
rs374691452
DNAH8
2 0.925 0.120 6 38723443 missense variant T/A;C snv 4.2E-06; 2.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs869025431
rs869025431
FHL1
2 0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06 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: rs1415568768
rs1415568768
FTH1 ; BEST1
1 1.000 0.080 11 61965454 missense variant T/C snv 4.1E-06 0.010 1.000 1 2013 2013
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: rs182798226
rs182798226
HLA-B ; HLA-C
2 0.925 0.080 6 31271285 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.700 0
dbSNP: rs199472948
rs199472948
KCNH2
1 1.000 0.080 7 150951531 missense variant C/T snv 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: rs193922649
rs193922649
LAMP2
2 0.925 0.160 X 120449063 frameshift variant T/- del 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: 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