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: rs2742540
rs2742540
DENND2B
2 11 8877981 intron variant A/G snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs34121753
rs34121753
DNAH2
2 17 7830515 intron variant A/G snv 0.40 0.41 0.700 1.000 1 2016 2016
dbSNP: rs342437
rs342437
AFF1
2 4 87119757 intron variant A/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 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: rs7311607
rs7311607
CACNA1C
1 12 2413815 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7312105
rs7312105
CACNA1C
2 12 2414189 intron variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs73736914
rs73736914
LOC101929705
1 6 44010849 intron variant A/G snv 3.6E-02 0.700 1.000 1 2018 2018
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: rs77542162
rs77542162
ABCA6
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs8100454
rs8100454
CYP2F2P
1 19 40820613 intron variant A/G snv 9.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 2 2017 2018
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs218264
rs218264 		5 4 54542708 intergenic variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs768090
rs768090
KLF7
2 2 207138855 intron variant A/G;T snv 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: rs1533988
rs1533988 		6 7 1253374 intergenic variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs2326451
rs2326451 		1 6 126490782 intron variant A/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2866611
rs2866611 		16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs3847858
rs3847858 		3 12 51924594 downstream gene variant A/T snv 8.9E-02 0.700 1.000 1 2018 2018