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: rs201325654
rs201325654
TBX3
1 1.000 12 114674250 missense variant G/A snv 1.4E-03 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
3 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs2267386
rs2267386
KCNJ4 ; LOC105373029
2 0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs353292
rs353292
MIR143 ; CARMN
3 0.882 0.080 5 149428245 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs4366490
rs4366490
SLC22A24 ; SLC22A10
2 0.925 0.080 11 63145382 intron variant T/C snv 0.76 0.700 1.000 1 2014 2014
dbSNP: rs4705343
rs4705343
MIR143 ; CARMN
7 0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4764267
rs4764267
MGST1
1 1.000 12 16370646 intron variant T/G snv 0.66 0.010 1.000 1 2020 2020
dbSNP: rs4808870
rs4808870
GDF1 ; CERS1
1 1.000 19 18878511 3 prime UTR variant T/C snv 0.91 0.010 1.000 1 2013 2013
dbSNP: rs6140038
rs6140038 		2 0.925 0.080 20 6601515 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6458939
rs6458939 		1 1.000 6 53495838 downstream gene variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs6545278
rs6545278 		2 0.925 0.080 2 52478914 upstream gene variant T/G snv 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs6556883
rs6556883
GLRX ; RHOBTB3
1 1.000 5 95816381 intron variant A/G snv 0.78 0.010 1.000 1 2020 2020
dbSNP: rs6658835
rs6658835
TGFB2 ; TGFB2-AS1
2 1.000 1 218347653 intron variant A/C;G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs6763159
rs6763159
LOC105377110
2 0.925 0.080 3 59663795 intron variant T/C snv 0.52 0.700 1.000 1 2014 2014
dbSNP: rs764896880
rs764896880
TBX2
1 1.000 17 61408189 missense variant C/A;T snv 8.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs766774041
rs766774041
CITED2
1 1.000 6 139373176 missense variant T/C snv 2.8E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs768160499
rs768160499
TBX3 ; LOC105370000
1 1.000 12 114680962 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs7818511
rs7818511
GSR
1 1.000 8 30719572 intron variant T/C snv 0.76 0.010 1.000 1 2018 2018