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: rs10962692
rs10962692 		3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13113999
rs13113999 		1 1.000 0.040 4 166265894 intergenic variant T/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs147527678
rs147527678 		17 0.708 0.280 6 32699696 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs37792
rs37792 		1 1.000 0.040 5 53348817 intergenic variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs57403204
rs57403204 		1 1.000 0.040 X 141990766 intron variant A/G snv 3.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs7902587
rs7902587 		2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs9870207
rs9870207 		1 1.000 0.040 3 190807727 intergenic variant A/G snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs746442213
rs746442213
ALK
1 1.000 0.040 2 29232307 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs4808075
rs4808075
BABAM1 ; USHBP1
18 0.701 0.280 19 17279482 intron variant T/C snv 0.26 0.700 1.000 2 2016 2017
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs199897804
rs199897804
CDKL5
1 1.000 0.040 X 18604645 missense variant C/A;T snv 4.9E-05 0.700 0
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016