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: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.020 1.000 2 2014 2016
dbSNP: rs10864376
rs10864376
CA6
2 0.925 0.080 1 8970313 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11672900
rs11672900
MAMSTR
1 1.000 0.040 19 48717066 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12138897
rs12138897
CA6
2 0.925 0.080 1 8971844 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2018 2018
dbSNP: rs140357883
rs140357883
MTMR3
1 1.000 0.040 22 29896823 intron variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs1429138
rs1429138 		1 1.000 0.040 4 147361190 regulatory region variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1594318
rs1594318
ALLC
1 1.000 0.040 2 3686354 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs185566659
rs185566659
OPA1 ; LOC102724808
1 1.000 0.040 3 193676936 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2287074
rs2287074
MMP2
4 0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs263771
rs263771 		1 1.000 0.040 2 185056965 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2652452
rs2652452
KCNJ3
1 1.000 0.040 2 154813691 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3737665
rs3737665
CA6
3 0.925 0.080 1 8970905 missense variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3865314
rs3865314
NPEPPS
1 1.000 0.040 17 47592158 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4971099
rs4971099
TRIM46
1 1.000 0.040 1 155183132 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6680186
rs6680186 		1 1.000 0.040 1 8979645 non coding transcript exon variant G/A;C;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs7217268
rs7217268
LINC02003 ; LINC00511
1 1.000 0.040 17 72341986 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7429279
rs7429279
RARB
1 1.000 0.040 3 25077146 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7501477
rs7501477 		4 0.851 0.160 17 78930194 upstream gene variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs761996476
rs761996476
AMELX ; ARHGAP6
2 0.925 0.080 X 11298573 missense variant T/C snv 5.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs768689932
rs768689932
LTF
1 1.000 0.040 3 46456334 missense variant T/A;C snv 8.0E-06; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs7738851
rs7738851
NEDD9
1 1.000 0.040 6 11241555 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8054556
rs8054556
TMEM219
4 0.925 0.080 16 29946895 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs898797
rs898797
LOC105379230 ; LOC105379231
1 1.000 0.040 8 9372179 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs931608
rs931608
ZNF98
2 1.000 0.040 19 22431320 intron variant A/C;T snv 0.800 1.000 1 2013 2013