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: rs6976
rs6976
GNL3 ; GLT8D1
4 0.851 0.080 3 52694788 3 prime UTR variant C/T snv 0.38 0.33 0.710 1.000 3 2015 2019
dbSNP: rs9350591
rs9350591 		2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs4252548
rs4252548
IL11
4 1.000 0.040 19 55368304 missense variant C/T snv 2.1E-02 1.8E-02 0.710 1.000 2 2018 2019
dbSNP: rs117018441
rs117018441
EP300
1 1.000 0.040 22 41157913 intron variant G/T snv 1.2E-02 0.710 1.000 1 2018 2018
dbSNP: rs143083812
rs143083812
SMO
1 1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04 0.710 1.000 1 2018 2018
dbSNP: rs10492367
rs10492367 		3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 2 2018 2019
dbSNP: rs10843013
rs10843013 		1 1.000 0.040 12 27872263 intergenic variant A/C snv 0.15 0.700 1.000 2 2018 2018
dbSNP: rs10896015
rs10896015
LTBP3
1 1.000 0.040 11 65556254 intron variant G/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs12209223
rs12209223
FILIP1 ; LOC101928540
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2785988
rs2785988 		2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs7222178
rs7222178 		1 1.000 0.040 17 61574921 TF binding site variant T/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11049193
rs11049193 		1 1.000 0.040 12 27842114 intergenic variant G/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs11059094
rs11059094
MLXIP
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11177
rs11177
GNL3 ; PBRM1 ; SNORD19 ; SNORD136
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.700 1.000 1 2018 2018
dbSNP: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019