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: rs12699251
rs12699251
THSD7A
1 1.000 0.040 7 11639486 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs151326733
rs151326733
DERA
1 1.000 0.040 12 16036544 intron variant G/C snv 1.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs1579050
rs1579050
FMNL2
3 0.925 0.040 2 152508013 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs17752199
rs17752199 		3 0.925 0.040 6 51542050 upstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs187112398
rs187112398
LOC101929408
1 1.000 0.040 15 75756813 intron variant C/T snv 7.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs190298731
rs190298731 		1 1.000 0.040 6 148738155 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs192917960
rs192917960
RBFOX1
1 1.000 0.040 16 5869654 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1992314
rs1992314
LOXL1
2 0.925 0.040 15 73931426 intron variant C/G snv 0.29 0.700 1.000 1 2007 2007
dbSNP: rs2022945
rs2022945 		2 1.000 0.040 8 107238911 intergenic variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs2024211
rs2024211 		1 1.000 0.040 7 116512971 downstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs2028386
rs2028386
LOXL1
2 1.000 0.040 15 73934367 intron variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs2073006
rs2073006
EXOC2
2 0.925 0.040 6 637465 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2093210
rs2093210
C14orf39
4 1.000 0.040 14 60490561 intron variant C/T snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs2188836
rs2188836 		2 1.000 0.040 7 117995328 downstream gene variant C/T snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs2304719
rs2304719
LOXL1
1 1.000 0.040 15 73943159 intron variant C/T snv 0.30 0.700 1.000 1 2007 2007
dbSNP: rs2437812
rs2437812
LOC105376196
1 1.000 0.040 9 104930920 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2472496
rs2472496
LOC105376196
2 1.000 0.040 9 104933072 upstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2745572
rs2745572
LOC102723944
3 0.925 0.040 6 1548134 intergenic variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs28500712
rs28500712
AFAP1
2 1.000 0.040 4 7894486 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28520091
rs28520091
AFAP1
2 1.000 0.040 4 7844513 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs28795989
rs28795989
AFAP1
2 1.000 0.040 4 7889818 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2935057
rs2935057 		1 1.000 0.040 6 170139691 intron variant A/G;T snv 0.700 1.000 1 2018 2018