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: rs12155623
rs12155623 		2 8 48899642 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs16942421
rs16942421
KCTD1
2 18 26576461 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2077316
rs2077316
ZNF365
1 10 62465689 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2251393
rs2251393
MARCHF10
3 1.000 0.080 17 62701571 3 prime UTR variant G/A;C snv 0.85; 4.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs597503
rs597503 		3 18 6939948 upstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs6964415
rs6964415 		2 7 46202985 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs143978652
rs143978652
MYH6
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.700 0
dbSNP: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs71352737
rs71352737
TRPM4
1 19 49182889 stop gained G/A snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs17291650
rs17291650
ATF1
2 12 50819650 synonymous variant A/G snv 6.7E-02 6.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs17718586
rs17718586 		2 17 70648048 intergenic variant G/T snv 7.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs16872085
rs16872085
ZFPM2
2 8 104945312 intron variant A/G snv 7.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs11624056
rs11624056 		2 14 87039904 intergenic variant A/T snv 8.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs11187837
rs11187837
PLCE1
2 10 94276223 intron variant T/C snv 8.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1554218
rs1554218
NGEF
1 2 232894174 intron variant G/T snv 8.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs16866933
rs16866933
ZNF385B ; LOC107985967
2 2 179701951 intron variant G/A snv 9.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs10765792
rs10765792
MAML2
2 11 96133536 intron variant G/C snv 0.10 0.700 1.000 1 2011 2011
dbSNP: rs12189362
rs12189362
GRIA1
2 5 153677988 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1559040
rs1559040
ACYP2
2 2 54120613 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs9581094
rs9581094
PARP4 ; TPTE2P6 ; LOC105370117
2 13 24508492 intron variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs2281680
rs2281680
AP1G2 ; LOC102724814
2 14 23563861 splice region variant C/T snv 0.18 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1823172
rs1823172 		2 12 127308069 intergenic variant C/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs7307780
rs7307780
LOC105369844
2 12 75826838 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011