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: rs200550907
rs200550907
MARK1
1 1 220527823 upstream gene variant -/AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs3081227
rs3081227
ZNF365
1 10 62418898 intron variant -/ATAACTTT;ATAATTTT;ATAGTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs146992477
rs146992477 		1 8 36984537 downstream gene variant -/CTTTCTTTCT delins 0.25 0.700 1.000 1 2018 2018
dbSNP: rs34091558
rs34091558
LMOD1
2 1.000 0.040 1 201917642 intron variant A/- delins 0.25 0.700 1.000 1 2016 2016
dbSNP: rs17001868
rs17001868
ADSL ; SGSM3 ; LOC107985538
3 0.925 0.080 22 40382227 intron variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs6557160
rs6557160 		2 6 151628447 intergenic variant A/C snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs61280460
rs61280460 		1 14 94329847 intergenic variant A/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs17356907
rs17356907
PGAM1P5
3 0.925 0.080 12 95633983 intron variant A/G snv 0.28 0.800 1.000 2 2012 2016
dbSNP: rs5752793
rs5752793 		1 22 28764326 intergenic variant A/G snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs62033406
rs62033406
FTO
5 16 53790314 intron variant A/G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs7102705
rs7102705
MYEOV
1 11 69328516 intron variant A/G snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs7659874
rs7659874 		1 4 74621799 regulatory region variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs12371778
rs12371778 		1 12 28003148 intergenic variant C/A;G snv 0.800 1.000 1 2012 2012
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs7089814
rs7089814
ZNF365
1 10 62427805 intron variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10096213
rs10096213 		1 8 36995695 regulatory region variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10483205
rs10483205
MRTFA
1 22 40487595 intron variant C/T snv 7.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs113198678
rs113198678
RBPMS ; RBPMS-AS1
1 8 30384102 intron variant C/T snv 5.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs12173570
rs12173570 		1 6 151636579 intergenic variant C/T snv 0.21 0.800 1.000 1 2012 2012
dbSNP: rs148713408
rs148713408
VPS13C
1 15 61928573 intron variant C/T snv 8.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs2359714
rs2359714 		1 1 118227648 intergenic variant C/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs3205718
rs3205718
FAIM2
2 12 49868026 3 prime UTR variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs4820792
rs4820792 		1 22 28765019 intergenic variant C/T snv 0.21 0.800 1.000 1 2012 2012
dbSNP: rs5995875
rs5995875
MRTFA ; LOC105373037
1 22 40564688 intron variant C/T snv 9.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs616402
rs616402
PEX14
2 1 10506215 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016