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: rs9913911
rs9913911
GAS7
4 0.925 0.040 17 10127866 intron variant A/G snv 0.32 0.700 1.000 6 2014 2018
dbSNP: rs2745572
rs2745572
LOC102723944
3 0.925 0.040 6 1548134 intergenic variant A/G snv 0.31 0.700 1.000 4 2017 2018
dbSNP: rs9853115
rs9853115 		3 0.925 0.040 3 186413811 intergenic variant T/A;G snv 0.51 0.700 1.000 4 2017 2018
dbSNP: rs10036789
rs10036789 		3 1.000 0.080 5 72400091 regulatory region variant C/A;G snv 0.700 1.000 3 2018 2018
dbSNP: rs10281637
rs10281637 		2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 3 2017 2018
dbSNP: rs10918274
rs10918274
TMCO1
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 3 2017 2018
dbSNP: rs11217878
rs11217878
ARHGEF12
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 3 2015 2018
dbSNP: rs113542380
rs113542380
THADA
5 2 43237679 intron variant G/A snv 4.7E-02 0.700 1.000 3 2018 2018
dbSNP: rs113985657
rs113985657
EXOC2
2 1.000 0.040 6 597203 intron variant C/T snv 0.14 0.700 1.000 3 2018 2018
dbSNP: rs1579050
rs1579050
FMNL2
3 0.925 0.040 2 152508013 intron variant A/G snv 0.42 0.700 1.000 3 2018 2018
dbSNP: rs163524
rs163524
LINC01833
1 2 44930414 intron variant C/A snv 0.20 0.700 1.000 3 2018 2018
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 3 2014 2018
dbSNP: rs327716
rs327716 		1 7 81209661 regulatory region variant A/G;T snv 0.700 1.000 3 2018 2018
dbSNP: rs3743860
rs3743860
FANCA
1 16 89752083 intron variant T/C snv 0.47 0.700 1.000 3 2018 2018
dbSNP: rs3791979
rs3791979
TNS1
3 1.000 0.040 2 217802649 3 prime UTR variant T/A;C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs4141194
rs4141194
PLEKHA7
1 11 16989629 intron variant C/A snv 0.20 0.700 1.000 3 2018 2018
dbSNP: rs4672075
rs4672075 		1 2 55816667 intergenic variant C/G snv 0.55 0.700 1.000 3 2018 2018
dbSNP: rs4775427
rs4775427
LOC107984782
1 15 61659036 intron variant C/T snv 0.42 0.700 1.000 3 2018 2018
dbSNP: rs6065171
rs6065171 		1 20 39910126 regulatory region variant T/C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs6732795
rs6732795
ANTXR1
1 2 69184385 intron variant A/C snv 0.51 0.700 1.000 3 2017 2018
dbSNP: rs7555523
rs7555523
TMCO1
4 0.925 0.040 1 165749742 intron variant C/A snv 0.88 0.700 1.000 3 2012 2017
dbSNP: rs76020419
rs76020419
ANGPT2 ; MCPH1
2 8 6502768 3 prime UTR variant G/T snv 2.7E-02 0.700 1.000 3 2018 2018
dbSNP: rs7635832
rs7635832
FNDC3B
1 3 172271486 intron variant T/G snv 0.22 0.700 1.000 3 2017 2018
dbSNP: rs7924522
rs7924522
ETS1
2 1.000 0.040 11 128510847 intron variant C/A snv 0.70 0.700 1.000 3 2018 2018
dbSNP: rs9494457
rs9494457
PDE7B
2 1.000 0.040 6 136153656 intron variant T/A snv 0.39 0.700 1.000 3 2018 2018