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: rs140692556
rs140692556
IWS1 ; LOC105373608
1 2 127461297 intron variant C/T snv 3.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs143593851
rs143593851
LINC02055
1 8 136212558 intron variant G/A snv 9.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs148050755
rs148050755
CEP95
1 17 64520841 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs17876031
rs17876031
F12 ; GRK6 ; SLC34A1
1 5 177404118 non coding transcript exon variant A/G;T snv 0.54; 1.5E-05 0.700 1.000 1 2019 2019
dbSNP: rs187147685
rs187147685 		1 4 160989304 intergenic variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2298711
rs2298711
LMAN1
1 18 59333237 missense variant T/A;C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs4253248
rs4253248
KLKB1
2 4 186234334 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs499423
rs499423 		1 11 104856826 regulatory region variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs542241509
rs542241509
DAB1
1 1 57708992 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs542754544
rs542754544 		1 1 37326889 upstream gene variant G/T snv 4.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs61971809
rs61971809 		1 14 21589386 upstream gene variant T/C snv 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs71483973
rs71483973
AP3M1
1 10 74140704 intron variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs7481951
rs7481951
ANO5
1 11 22250324 missense variant A/C;G;T snv 8.0E-06; 2.8E-05; 0.48 0.700 1.000 1 2019 2019