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: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.800 1.000 5 2009 2019
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: rs218238
rs218238 		3 4 54528857 intergenic variant A/T snv 0.38 0.800 1.000 4 2009 2018
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 4 2009 2012
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.800 1.000 3 2009 2019
dbSNP: rs1547247
rs1547247
HBS1L
5 6 135069698 intron variant G/A snv 0.22 0.800 1.000 3 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: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 3 2009 2019
dbSNP: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.800 1.000 2 2009 2019
dbSNP: rs10947997
rs10947997
CCND3
4 6 41953503 intron variant G/T snv 0.13 0.800 1.000 2 2009 2016
dbSNP: rs11628273
rs11628273
FNTB ; MAX ; CHURC1-FNTB ; MIR4706
2 14 65043160 intron variant C/T snv 0.57 0.800 1.000 2 2009 2019
dbSNP: rs1320963
rs1320963 		5 6 135122074 intergenic variant A/G snv 0.35 0.700 1.000 2 2009 2012
dbSNP: rs1569534
rs1569534 		4 6 135130442 intergenic variant C/T snv 0.21 0.700 1.000 2 2009 2012
dbSNP: rs17064262
rs17064262 		4 6 135144336 intergenic variant T/C snv 0.18 0.700 1.000 2 2009 2012
dbSNP: rs2050019
rs2050019 		4 6 135142809 intergenic variant C/T snv 0.27 0.700 1.000 2 2009 2012
dbSNP: rs210962
rs210962
MYB
2 6 135182647 intron variant C/T snv 0.32 0.800 1.000 2 2009 2017
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2009 2010
dbSNP: rs4953318
rs4953318
PRKCE
5 2 46127912 intron variant A/C snv 0.43 0.800 1.000 2 2009 2017
dbSNP: rs590856
rs590856
LOC105378023
3 6 139523292 intron variant G/A snv 0.50 0.800 1.000 2 2009 2019
dbSNP: rs592423
rs592423 		6 6 139519556 intron variant A/C snv 0.50 0.800 1.000 2 2009 2016
dbSNP: rs6568571
rs6568571
CCDC162P
3 6 109292049 intron variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs7757054
rs7757054 		3 6 135166476 intergenic variant A/G snv 0.13 0.700 1.000 2 2009 2012
dbSNP: rs9376090
rs9376090
HBS1L
7 6 135090090 intron variant T/C snv 0.19 0.800 1.000 2 2009 2018
dbSNP: rs9376092
rs9376092
LOC105378010
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.700 1.000 2 2009 2012