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: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10190094
rs10190094
AGAP1
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1044122
rs1044122
ADAM12
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs10492367
rs10492367 		3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1060105
rs1060105
SBNO1
3 0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1065080
rs1065080
SMAD3
1 1.000 0.040 15 67164997 missense variant A/G;T snv 0.87 0.010 1.000 1 2019 2019
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: rs1078301
rs1078301
LOC105376225
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10817595
rs10817595
AKNA
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.810 1.000 2 2010 2010
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 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 0.010 1.000 1 2018 2018
dbSNP: rs112129861
rs112129861
RNF111
1 1.000 0.040 15 59047450 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2016 2016
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: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2015 2015
dbSNP: rs11564299
rs11564299 		2 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
SUPT3H
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 0.700 1.000 1 2019 2019