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: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.700 1.000 2 2017 2017
dbSNP: rs1005300
rs1005300
CBX7
1 1.000 0.120 22 39151886 intron variant C/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs10507419
rs10507419
LINC00457 ; LINC02343
1 1.000 0.120 13 34612315 intron variant T/A snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs10799599
rs10799599 		1 1.000 0.120 1 19968007 upstream gene variant C/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs4487645
rs4487645
DNAH11
3 0.882 0.200 7 21898622 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6752376
rs6752376
LOC105373401
1 1.000 0.120 2 6303084 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs7820212
rs7820212 		1 1.000 0.120 8 52506268 intergenic variant T/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs79419269
rs79419269
SMARCD3
1 1.000 0.120 7 151239990 intron variant T/C snv 7.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2009 2009