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: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.800 1.000 4 2009 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2009 2019
dbSNP: rs6569992
rs6569992 		4 6 135131014 intergenic variant G/A;C;T snv 0.800 1.000 3 2009 2012
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.700 1.000 3 2016 2019
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1256061
rs1256061
ESR2
5 14 64236875 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.700 1.000 2 2013 2017
dbSNP: rs16929368
rs16929368
CACNA1C
1 12 2414606 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs2337106
rs2337106
SMAD7
4 18 48934533 intron variant C/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2009 2010
dbSNP: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs62160676
rs62160676
MIR4435-2HG
5 2 111410354 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs6538148
rs6538148 		4 12 88424702 intergenic variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs6568571
rs6568571
CCDC162P
3 6 109292049 intron variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 2 2009 2012
dbSNP: rs10092747
rs10092747
TAF2
1 8 119736926 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10404876
rs10404876
DNASE2
2 19 12876791 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1041479
rs1041479 		2 6 135167358 regulatory region variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs10423902
rs10423902 		1 19 33273956 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1051130
rs1051130
CCND3
1 6 41936044 missense variant A/C;G;T snv 0.54; 1.6E-05 0.700 1.000 1 2009 2009
dbSNP: rs1053872
rs1053872
RCL1
4 0.925 0.080 9 4860643 3 prime UTR variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10758657
rs10758657
RCL1
2 9 4853751 intron variant A/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs10764671
rs10764671
ANKRD26
1 10 27095178 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10772280
rs10772280
KLRC2
2 12 10428441 intron variant C/A;T snv 0.700 1.000 1 2019 2019