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: rs4053798
rs4053798 		1 6 85233471 intergenic variant A/C snv 1.00 0.700 1.000 1 2018 2018
dbSNP: rs4554696
rs4554696
PDE4B
2 1 65942328 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs4809706
rs4809706 		1 20 48577181 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs61606793
rs61606793
KCNMB2 ; KCNMB2-AS1
1 3 178690059 intron variant T/G snv 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs62199592
rs62199592 		2 2 183858773 intergenic variant A/G snv 2.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs6475417
rs6475417
SLC24A2
2 9 20212043 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6661750
rs6661750
PDE4B
2 1 66081201 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6880062
rs6880062 		1 5 153918465 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs72940689
rs72940689 		1 1 80963082 intergenic variant G/A snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs76426299
rs76426299 		1 8 57438152 regulatory region variant G/A snv 3.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs7862648
rs7862648
ADAMTSL1
1 9 18290859 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs79324256
rs79324256
KCNMB2 ; KCNMB2-AS1
1 3 178688376 intron variant T/C snv 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs11004733
rs11004733
PCDH15
4 0.882 0.040 10 55089584 intron variant C/T snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs111326206
rs111326206 		2 1.000 0.040 3 142719589 intron variant T/C snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs111367251
rs111367251 		2 1.000 0.040 7 145271196 downstream gene variant C/G snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs111625585
rs111625585 		2 1.000 0.040 14 82337988 intergenic variant C/T snv 4.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs113330417
rs113330417
GPHN
2 1.000 0.040 14 66782703 intron variant A/G snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs113386487
rs113386487 		2 1.000 0.040 10 13316583 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs116428372
rs116428372
CAPN15
2 1.000 0.040 16 539359 non coding transcript exon variant G/A snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs13137453
rs13137453 		2 1.000 0.040 4 152986727 intergenic variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs141252918
rs141252918
CCDC170
4 0.882 0.040 6 151506923 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs145440507
rs145440507
LOC339975
2 1.000 0.040 4 187479383 regulatory region variant A/T snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs149268645
rs149268645
WDR12 ; CARF
4 0.882 0.040 2 202968295 intron variant G/A snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs180697792
rs180697792
ABCA5
2 1.000 0.040 17 69298289 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs183414028
rs183414028 		2 1.000 0.040 1 39976354 intergenic variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019