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: rs1346865805
rs1346865805
OPTN
1 1.000 0.040 10 13110416 missense variant G/C snv 1.2E-05 0.700 1.000 11 2002 2014
dbSNP: rs373425395
rs373425395
OPTN
1 1.000 0.040 10 13132122 missense variant A/G snv 1.6E-05 7.7E-05 0.700 1.000 11 2002 2014
dbSNP: rs145285325
rs145285325
IL20RA
1 1.000 0.040 6 137008718 missense variant G/A snv 1.2E-05 1.4E-05 0.030 1.000 3 2014 2019
dbSNP: rs367923973
rs367923973
IL20RB ; IL20RB-AS1
1 1.000 0.040 3 136982255 missense variant C/T snv 4.0E-06 2.1E-05 0.030 1.000 3 2014 2019
dbSNP: rs781662103
rs781662103
MMP1 ; WTAPP1
1 1.000 0.040 11 102797141 synonymous variant A/G snv 8.0E-06 1.4E-05 0.030 1.000 3 2011 2015
dbSNP: rs10202118
rs10202118
LOC730100
1 1.000 0.040 2 51723186 intron variant C/T snv 0.67 0.020 1.000 2 2012 2015
dbSNP: rs1533428
rs1533428
LOC730100
1 1.000 0.040 2 51732120 intron variant T/A;C snv 0.020 1.000 2 2012 2013
dbSNP: rs1051993
rs1051993
AGER ; PBX2
1 1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1056837
rs1056837
CYP1B1
1 1.000 0.040 2 38071007 missense variant A/G;T snv 0.63 0.010 < 0.001 1 2015 2015
dbSNP: rs1057519378
rs1057519378
CARD10
1 1.000 0.040 22 37516037 missense variant C/A;T snv 4.4E-06; 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs11125375
rs11125375
LOC730100
1 1.000 0.040 2 51725011 intron variant G/A snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs111698934
rs111698934
FNDC3B
1 1.000 0.040 3 172315221 intron variant C/G snv 5.7E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs112983858
rs112983858
CD48
1 1.000 0.040 1 160681172 frameshift variant C/-;CC;CCC delins 5.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs1171063544
rs1171063544
ASB10
1 1.000 0.040 7 151181278 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12436579
rs12436579 		1 1.000 0.040 14 60516369 intron variant C/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1 1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1270841723
rs1270841723
MYOC ; MYOCOS
1 1.000 0.040 1 171636185 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12789379
rs12789379
STIP1
1 1.000 0.040 11 64195658 missense variant C/A;G snv 8.2E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs1279386
rs1279386
EDNRB-AS1 ; LOC112268121
1 1.000 0.040 13 77800045 intron variant A/T snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1315538274
rs1315538274
MUL1
1 1.000 0.040 1 20503285 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs139006752
rs139006752
CARD10
1 1.000 0.040 22 37508609 missense variant G/A snv 1.7E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs1428758
rs1428758
CNTNAP4
1 1.000 0.040 16 76307609 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs143413116
rs143413116
MYOC
1 1.000 0.040 1 171652341 stop gained G/A snv 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs144249808
rs144249808
PRPF8
1 1.000 0.040 17 1684534 missense variant G/A snv 1.0E-04 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs145437203
rs145437203
WDR36
1 1.000 0.040 5 111092362 missense variant T/C snv 7.2E-03; 4.0E-06 7.6E-03 0.010 1.000 1 2011 2011