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: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 2 2010 2016
dbSNP: rs16972495
rs16972495
CEMIP
1 15 80856398 intron variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs6058093
rs6058093
PIGU
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs62071306
rs62071306
TBX2 ; TBX2-AS1
1 17 61398705 intron variant A/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs9887774
rs9887774 		1 1 23375891 downstream gene variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs10518733
rs10518733
WDR72
1 15 53648110 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1705694
rs1705694 		2 8 23912105 intergenic variant A/C;G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs17169194
rs17169194
RPA3 ; UMAD1
2 7 7641066 5 prime UTR variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs56376587
rs56376587
NFATC1 ; LOC107985163
2 18 79400235 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs8072297
rs8072297
FBXL20
1 17 39321795 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2016
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs10851885
rs10851885
NRG4
5 0.925 0.120 15 76012162 5 prime UTR variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs138551969
rs138551969
VEGFA
4 1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs142516820
rs142516820
MLIP
2 6 54138254 missense variant A/G snv 2.7E-03 9.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs163160
rs163160
KCNQ1
2 11 2768725 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs17257827
rs17257827
LOC105379011
1 5 68519186 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2511162
rs2511162
GAB2 ; USP35
1 11 78216055 3 prime UTR variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs2888875
rs2888875
THADA
2 2 43560953 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs3127573
rs3127573
SLC22A2
2 6 160260361 5 prime UTR variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs316020
rs316020
SLC22A2
2 6 160248049 intron variant A/G snv 0.89 0.700 1.000 1 2018 2018