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: rs7575217
rs7575217
TBC1D8
3 2 101160470 intron variant A/G snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs7168592
rs7168592
CHSY1
4 15 101183294 intron variant C/T snv 9.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2436845
rs2436845
AZIN1
4 8 102840179 intron variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs930232
rs930232
CNN2
1 19 1036019 intron variant G/A;C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045
SLC25A24
5 1 108200437 5 prime UTR variant G/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
C11orf65
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1991651
rs1991651
LOC101929248
4 8 10848901 downstream gene variant C/G snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs9400271
rs9400271
CCDC162P
6 6 109286353 non coding transcript exon variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs555346412
rs555346412
HECTD4
5 12 112191863 intron variant G/C snv 8.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs2029582
rs2029582
IL1RN
4 2 113106194 upstream gene variant T/C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630
ZBTB16
5 11 114086475 intron variant G/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914
ZBTB16
5 11 114113387 intron variant C/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs143034248
rs143034248
JAML
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs2954031
rs2954031 		9 8 125479491 intron variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs8705
rs8705
ETS1
5 11 128459018 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2734031
rs2734031 		1 3 128582547 intergenic variant T/C snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6782228
rs6782228 		7 3 128604581 intergenic variant G/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs397731840
rs397731840
CCDC26
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs1982094
rs1982094
CCDC26
5 8 129612570 intron variant C/T snv 4.8E-02 0.700 1.000 1 2016 2016