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: rs10274553
rs10274553
CTB-30L5.1
1 7 106716200 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12534473
rs12534473
CTB-30L5.1
1 7 106734102 intron variant T/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs143558304
rs143558304
TPM4
2 19 16102887 3 prime UTR variant -/A delins 4.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2853961
rs2853961 		13 6 31264212 downstream gene variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs3123543
rs3123543
ATF3
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs34818942
rs34818942
RHOF ; LOC107984442
1 12 121789928 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs4837892
rs4837892
TTLL11
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs7296503
rs7296503
PDZRN4
13 12 41306962 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs76792961
rs76792961
FAM234A
13 16 243594 intron variant C/T snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs9917425
rs9917425
OTOR
13 20 16755400 intron variant G/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1001494
rs1001494
ST7L
1 1 112567997 intron variant T/C snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs10062757
rs10062757 		1 5 62239297 intergenic variant T/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs10072221
rs10072221
IQGAP2
1 5 76424719 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10220411
rs10220411
ACTN1-AS1
2 14 68985371 intron variant A/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1059196
rs1059196
GP1BB ; SEPT5-GP1BB
3 22 19724571 3 prime UTR variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10605167
rs10605167
ENDOD1
1 11 95095304 intron variant TCC/-;TCCTCC delins 0.700 1.000 1 2016 2016
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs10821556
rs10821556 		1 9 134077014 upstream gene variant C/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10886430
rs10886430
GRK5
3 10 119250744 intron variant A/G snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10900828
rs10900828 		1 5 134500603 upstream gene variant T/A;C;G snv 0.700 1.000 1 2016 2016