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: rs10850377
rs10850377
LOC107984437
2 12 114763631 intron variant G/A;C snv 0.700 1.000 3 2015 2019
dbSNP: rs2637254
rs2637254
LRMDA
3 10 76552244 intron variant G/A snv 0.44 0.700 1.000 3 2017 2019
dbSNP: rs10141786
rs10141786
VRTN
2 14 74350715 intron variant A/G snv 0.67 0.700 1.000 2 2019 2019
dbSNP: rs10498672
rs10498672
BMP6
2 6 7797607 intron variant C/G snv 0.13 0.700 1.000 2 2019 2019
dbSNP: rs10998018
rs10998018
MYPN
3 10 68203197 intron variant G/A snv 0.41 0.700 1.000 2 2019 2019
dbSNP: rs11176001
rs11176001 		3 12 66015587 regulatory region variant C/A snv 9.6E-02 0.700 1.000 2 2019 2019
dbSNP: rs11191841
rs11191841
STN1
3 10 103879853 3 prime UTR variant T/C snv 0.47 0.700 1.000 2 2019 2019
dbSNP: rs11621587
rs11621587
RIN3
3 14 92631994 intron variant G/C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.700 1.000 2 2019 2019
dbSNP: rs12497779
rs12497779 		2 3 99103206 intergenic variant G/T snv 0.25 0.700 1.000 2 2019 2019
dbSNP: rs12634907
rs12634907
RSRC1
2 3 158509097 intron variant A/G snv 0.28 0.700 1.000 2 2019 2019
dbSNP: rs12698403
rs12698403 		3 7 156334552 intergenic variant G/A snv 0.40 0.700 1.000 2 2019 2019
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 2 2019 2019
dbSNP: rs1513272
rs1513272
JAZF1
4 7 28160478 intron variant C/T snv 0.40 0.700 1.000 2 2019 2019
dbSNP: rs17009288
rs17009288 		2 1 221030957 regulatory region variant A/C snv 0.30 0.700 1.000 2 2019 2019
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.700 1.000 2 2019 2019
dbSNP: rs2345443
rs2345443
WWOX
3 16 78191736 intron variant A/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs2441026
rs2441026
ARL15
2 5 54148668 intron variant C/T snv 0.44 0.700 1.000 2 2017 2019
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 2 2017 2019
dbSNP: rs2812208
rs2812208
DLEU1
5 13 50132951 intron variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 2 2017 2019
dbSNP: rs35043843
rs35043843 		3 1 118368672 intergenic variant T/G snv 0.21 0.700 1.000 2 2019 2019
dbSNP: rs35506
rs35506
LOC102723639
1 12 115062886 intergenic variant T/A snv 0.76 0.700 1.000 2 2017 2019
dbSNP: rs3751837
rs3751837
CLUAP1
3 16 3533173 3 prime UTR variant C/A;T snv 0.22 0.23 0.700 1.000 2 2019 2019
dbSNP: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019