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: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.060 1.000 6 2005 2019
dbSNP: rs74315337
rs74315337
MYOC
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.030 1.000 3 2000 2004
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.810 1.000 2 2011 2012
dbSNP: rs74315341
rs74315341
MYOC ; MYOCOS
4 0.851 0.040 1 171636686 missense variant C/T snv 0.020 1.000 2 2007 2018
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1013278
rs1013278 		1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10152898
rs10152898 		1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1020338837
rs1020338837
AZI2
1 1.000 0.040 3 28340470 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10281637
rs10281637 		2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs1035650739
rs1035650739
NR1H2 ; NAPSA ; LOC105372437
1 1.000 0.040 19 50362252 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs10505100
rs10505100
ANGPT1
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs10918274
rs10918274
TMCO1
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs11024102
rs11024102
PLEKHA7
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11217878
rs11217878
ARHGEF12
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs113432289
rs113432289
RAPGEF5
1 1.000 0.040 7 22253498 intron variant A/C snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs113985657
rs113985657
EXOC2
2 1.000 0.040 6 597203 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs116529882
rs116529882
WDR36
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs11710139
rs11710139
LOC107986141 ; LOC107986142
1 1.000 0.040 3 150341555 non coding transcript exon variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs1210326005
rs1210326005
LOXL1 ; LOXL1-AS1
1 1.000 0.040 15 73927510 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs12150284
rs12150284
GAS7
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12154178
rs12154178
ESR1
2 0.925 0.040 6 151929945 intron variant C/A snv 0.59 0.010 1.000 1 2019 2019