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 0.070 1.000 7 2003 2018
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10759930
rs10759930 		1 1.000 0.040 9 117699343 upstream gene variant C/T snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs12025126
rs12025126
RERE
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1333037
rs1333037
CDKN2B-AS1
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1926320
rs1926320
DCLK1
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
dbSNP: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs2033008
rs2033008
NCK2
1 1.000 0.040 2 105886129 intron variant T/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs2041895
rs2041895
TMEM263
1 1.000 0.040 12 106956310 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.010 1.000 1 2001 2001
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs2274755
rs2274755
MMP9
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2018 2018
dbSNP: rs284491
rs284491
ZFPM2
2 0.925 0.040 8 104946405 intron variant C/T snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs3213787
rs3213787
SRBD1
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs557678153
rs557678153
OPTN
1 1.000 0.040 10 13126017 missense variant T/C snv 4.8E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs59758982
rs59758982
TP53
2 0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82 0.010 1.000 1 2009 2009
dbSNP: rs61854782
rs61854782
ATOH7
2 0.925 0.040 10 68231992 5 prime UTR variant T/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs678350
rs678350
HK2
1 1.000 0.040 2 74835743 intron variant G/A snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs690037
rs690037
RFTN1 ; OXNAD1
3 0.882 0.040 3 16354161 intron variant C/G;T snv 0.010 1.000 1 2012 2012