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: rs12369179
rs12369179
ZCCHC8
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs12420422
rs12420422 		16 0.851 0.120 11 123009573 intergenic variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12431939
rs12431939 		1 14 51225981 regulatory region variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs12432203
rs12432203
TMX1
1 14 51244143 non coding transcript exon variant A/G snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs12444795
rs12444795
GLYR1
1 16 4840065 non coding transcript exon variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12494691
rs12494691
DAZL
1 3 16658827 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12539089
rs12539089 		1 7 142798609 upstream gene variant C/A snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs12580194
rs12580194 		1 12 55302774 intergenic variant G/A snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs12588488
rs12588488 		1 14 51193499 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12596115
rs12596115
SEC14L5
1 16 4985022 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13048252
rs13048252
KCNE2 ; LOC105372791
1 21 34363867 intron variant G/A snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1343795
rs1343795
ZNF652
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs1395602
rs1395602
UBN1
1 16 4861238 intron variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs1468734
rs1468734
PPL
1 16 4951303 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1498924
rs1498924
LOC101929710
1 5 96443526 intron variant C/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs1506403
rs1506403 		1 7 143053854 downstream gene variant C/T snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs1532557
rs1532557
CNIH3 ; CNIH3-AS2
1 1 224617410 intron variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs153852
rs153852
MCTP1
1 5 94840876 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1558562
rs1558562
SEC14L5 ; NAGPA-AS1
1 16 5011882 intron variant A/C snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs1577074
rs1577074 		1 10 118223544 intergenic variant A/G snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1641025
rs1641025
ABAT
1 16 8777531 intron variant T/C snv 0.74 0.700 1.000 1 2018 2018