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: rs112721625
rs112721625 		2 17 59850066 upstream gene variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs11327184
rs11327184
CCDC26
4 8 129592027 intron variant C/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs113760175
rs113760175
CASC15
3 6 22343363 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113899791
rs113899791
IRF8
2 16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins 0.700 1.000 1 2016 2016
dbSNP: rs115340020
rs115340020
GLMN ; RPAP2
2 1 92300881 intron variant G/A snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1157008
rs1157008 		3 9 88920798 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11580646
rs11580646
TENT5C
2 1 117619797 intron variant C/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11611647
rs11611647 		4 12 4224753 intergenic variant T/C snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs11640143
rs11640143 		2 16 85955858 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11642657
rs11642657 		3 16 85982722 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11686139
rs11686139 		2 2 226426699 intergenic variant A/C snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs11723763
rs11723763
GYPA ; LOC107986317
2 4 144137143 intron variant G/T snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs117533700
rs117533700
NFIX
2 19 13065914 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11775706
rs11775706 		2 8 6843366 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs117758012
rs117758012
MAST1 ; HOOK2
3 1.000 0.080 19 12846836 intron variant C/T snv 4.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs11992162
rs11992162 		2 8 11979005 upstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.700 1.000 1 2016 2016
dbSNP: rs12151289
rs12151289 		3 19 33260946 intergenic variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12232384
rs12232384 		2 16 85976154 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12266014
rs12266014
PRTFDC1
7 10 24922362 intron variant C/T snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs12312487
rs12312487
CMKLR1
2 12 108327859 intron variant G/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs12458462
rs12458462
CTDP1
2 18 79712436 intron variant C/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs12459847
rs12459847
MARK4
3 19 45247899 intron variant G/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs12480732
rs12480732
NOL4L-DT
2 20 32603213 intron variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs12711490
rs12711490 		4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016