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: rs2337106
rs2337106
SMAD7
4 18 48934533 intron variant C/A;G snv 0.700 1.000 3 2018 2019
dbSNP: rs2823139
rs2823139 		5 1.000 0.080 21 15204463 intron variant G/A snv 0.34 0.700 1.000 3 2019 2019
dbSNP: rs2834317
rs2834317
LOC105372790
2 21 33984405 regulatory region variant G/A snv 0.11 0.700 1.000 3 2019 2019
dbSNP: rs3741414
rs3741414
INHBC
7 0.925 0.120 12 57450266 3 prime UTR variant C/T snv 0.19 0.800 1.000 3 2012 2019
dbSNP: rs3925584
rs3925584
LOC101928338
7 1.000 0.080 11 30738788 intergenic variant T/C snv 0.35 0.700 1.000 3 2016 2019
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 3 2016 2019
dbSNP: rs6127099
rs6127099 		5 20 54114863 intergenic variant A/T snv 0.28 0.700 1.000 3 2017 2019
dbSNP: rs632887
rs632887
TSPAN9
1 12 3283185 3 prime UTR variant A/G snv 0.44 0.700 1.000 3 2019 2019
dbSNP: rs7007761
rs7007761 		1 8 23862058 TF binding site variant C/A;G;T snv 0.700 1.000 3 2019 2019
dbSNP: rs7475348
rs7475348
MYPN
2 10 68205420 intron variant C/T snv 0.41 0.700 1.000 3 2018 2019
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 3 2017 2019
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 2 2016 2016
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 2 2018 2019
dbSNP: rs10254101
rs10254101
PRKAG2
3 7 151718450 intron variant C/T snv 0.23 0.700 1.000 2 2017 2019
dbSNP: rs10746942
rs10746942
PIP5K1B
2 9 68819549 intron variant G/A snv 0.63 0.700 1.000 2 2017 2019
dbSNP: rs10774020
rs10774020
SLC6A13
1 12 239710 intron variant T/C snv 0.58 0.700 1.000 2 2019 2019
dbSNP: rs10823156
rs10823156
MYPN
1 10 68192084 intron variant G/C snv 0.45 0.700 1.000 2 2019 2019
dbSNP: rs10846157
rs10846157
RERG
1 12 15172097 intron variant A/C snv 0.29 0.700 1.000 2 2019 2019
dbSNP: rs10850001
rs10850001 		1 12 112115228 intergenic variant T/A snv 0.36 0.700 1.000 2 2019 2019
dbSNP: rs10994860
rs10994860
A1CF
5 0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19 0.700 1.000 2 2016 2019
dbSNP: rs11062167
rs11062167
SLC6A13 ; LOC102723544
2 12 255573 intron variant G/A snv 0.36 0.700 1.000 2 2017 2019
dbSNP: rs11103387
rs11103387
QSOX2
1 9 136216033 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs111366116
rs111366116
ARL15
2 5 53999716 intron variant C/T snv 8.4E-02 0.700 1.000 2 2017 2019
dbSNP: rs11166440
rs11166440 		1 1 100342807 upstream gene variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs11657044
rs11657044
BCAS3
2 17 61372744 intron variant T/C snv 0.69 0.700 1.000 2 2016 2019