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: rs111843364
rs111843364
HYDIN
1 16 70923707 intron variant G/A snv 3.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs112682076
rs112682076
KIF1B
2 1 10297748 intron variant G/C snv 5.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
PRKCE
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11654074
rs11654074
VMP1
5 17 59748211 intron variant A/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs11665867
rs11665867
SNRPA
1 19 40760574 intron variant A/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs11689538
rs11689538
TFCP2L1
3 2 121238062 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11730623
rs11730623 		2 4 69020433 upstream gene variant A/T snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs11760376
rs11760376 		2 7 134684558 intron variant A/G snv 1.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs12310617
rs12310617 		16 0.851 0.120 12 3060327 intergenic variant C/T snv 0.11 0.700 1.000 1 2016 2016
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: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs12520522
rs12520522 		1 5 40494576 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12548864
rs12548864
PVT1
1 8 127916000 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs1256061
rs1256061
ESR2
5 14 64236875 intron variant G/A;T snv 0.700 1.000 1 2016 2016
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: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs12811512
rs12811512
GPRC5A
3 12 12893277 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs128494
rs128494
CLDN14 ; LOC105369301
4 21 36461960 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs12889267
rs12889267
ARHGEF40
4 14 21074607 missense variant A/G snv 0.16 0.13 0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
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: rs1320959
rs1320959 		3 6 135116248 regulatory region variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs1331309
rs1331309
HBS1L
2 6 135085040 intron variant T/G snv 0.19 0.700 1.000 1 2018 2018