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: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs12375983
rs12375983 		2 0.925 0.120 9 89595154 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1243572
rs1243572 		2 0.925 0.120 14 94913162 intergenic variant T/C snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs12543318
rs12543318 		4 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 0.700 1.000 2 2017 2017
dbSNP: rs12681366
rs12681366
RAD54B ; FSBP
2 0.925 0.120 8 94389037 intron variant T/C snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs12944377
rs12944377
NTN1
3 0.882 0.120 17 9044391 intron variant T/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs13041247
rs13041247
LOC102724968
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.710 0.500 2 2010 2015
dbSNP: rs13317
rs13317
FGFR1
3 0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs1332974507
rs1332974507
GREM1
2 0.925 0.120 15 32731180 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs140291094
rs140291094
STAC3
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs143238378
rs143238378
LINC02476
1 1.000 0.120 7 119626216 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs146753226
rs146753226
SIX2
3 0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 0.010 1.000 1 2020 2020
dbSNP: rs1474322770
rs1474322770
NKX2-1 ; SFTA3 ; NKX2-1-AS1
5 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs1487022
rs1487022
VPS13B
2 0.925 0.120 8 99517598 intron variant G/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs150382487
rs150382487
LINC02476
1 1.000 0.120 7 119500548 intron variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1528845
rs1528845 		1 1.000 0.120 2 147749295 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs1588366
rs1588366
TANC2
2 0.925 0.120 17 62999067 regulatory region variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1688766
rs1688766
FILIP1L ; CMSS1
2 0.925 0.120 3 99929006 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs17010021
rs17010021
LOXL3
3 0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs182830500
rs182830500
LINC02476
1 1.000 0.120 7 119521299 intron variant T/C snv 2.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1838105
rs1838105
GOSR2 ; LRRC37A2
2 0.925 0.120 17 46931569 non coding transcript exon variant A/G snv 0.63 0.700 1.000 1 2017 2017