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: rs1347767
rs1347767 		1 2 135728087 downstream gene variant C/T snv 0.97 0.700 1.000 2 2019 2019
dbSNP: rs10171849
rs10171849
IL1RN
1 2 113108257 intron variant A/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs11104881
rs11104881 		1 12 88449697 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs115681968
rs115681968
HLA-B ; LOC112267902
1 6 31304776 intron variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs12453732
rs12453732
MED24
1 17 40021586 intron variant A/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs12469306
rs12469306
LY75 ; LY75-CD302
1 2 159848974 intron variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs12606438
rs12606438
LINC01478
1 18 44461098 intron variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12905525
rs12905525
SPPL2A
1 15 50763625 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs149881318
rs149881318
DARS1
1 2 135938202 intron variant T/C snv 5.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs1917445
rs1917445 		1 11 103718366 intron variant C/T snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs2072910
rs2072910
PLCB4
1 20 9384656 intron variant T/C snv 0.23 0.800 1.000 1 2010 2010
dbSNP: rs2301813
rs2301813
GRIN3B
1 19 1000800 synonymous variant G/C snv 0.71 0.68 0.700 1.000 1 2018 2018
dbSNP: rs272594
rs272594 		1 8 80557885 upstream gene variant A/C snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs2837828
rs2837828
DSCAM
1 21 40803034 intron variant A/G snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs2994007
rs2994007 		1 1 36415228 downstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs34733715
rs34733715 		1 19 51376740 upstream gene variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs35272691
rs35272691 		1 17 40001588 downstream gene variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4237036
rs4237036
CHD7
1 8 60788498 intron variant C/T snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs4804815
rs4804815
LOC105372263
1 19 7777783 intergenic variant C/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs5013026
rs5013026
BCL2L13
1 22 17688884 intron variant C/T snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs562760
rs562760
ATXN1
1 6 16749780 intron variant G/C;T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs6601606
rs6601606
NEIL2
1 8 11780735 intron variant A/G snv 4.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs6775745
rs6775745
CPNE4
1 3 132095056 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs709591
rs709591
MED24
1 17 40019308 3 prime UTR variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs75418630
rs75418630
CCDC26
1 8 129544786 intron variant A/G snv 1.8E-03 0.700 1.000 1 2018 2018