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: rs11689538
rs11689538
TFCP2L1
3 2 121238062 intron variant G/C 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: rs7632505
rs7632505
SEMA5B
17 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs6442310
rs6442310
PPARG
1 3 12316731 intron variant T/A snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs62435145
rs62435145 		8 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs1533988
rs1533988 		6 7 1253374 intergenic variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs2326451
rs2326451 		1 6 126490782 intron variant A/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs67145503
rs67145503
AK1
3 9 127866245 downstream gene variant T/A snv 0.21 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: rs12811512
rs12811512
GPRC5A
3 12 12893277 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs7740107
rs7740107
L3MBTL3
6 1.000 0.080 6 130053316 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs8176643
rs8176643
ABO
3 9 133274294 intron variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs651007
rs651007 		22 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017
dbSNP: rs2519796
rs2519796
VAV2
2 9 133960211 intron variant G/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs6745983
rs6745983
TMEM163
1 2 134673139 intron variant G/A snv 0.55 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: rs6430549
rs6430549
ACMSD ; CCNT2-AS1
1 2 134858776 intron variant A/G snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs1331309
rs1331309
HBS1L
2 6 135085040 intron variant T/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs9376090
rs9376090
HBS1L
7 6 135090090 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 2 2010 2012