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: rs62569723
rs62569723
LOC105376219
2 9 111174639 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs200243293
rs200243293
LOC105376219
2 9 111183336 intron variant G/-;GG delins 0.700 1.000 1 2017 2017
dbSNP: rs17207368
rs17207368
LOC105376219
2 9 111191714 intron variant G/A snv 1.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs540639423
rs540639423
SH2B3
2 12 111407152 intron variant C/T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2273788
rs2273788
PTGR1
2 9 111586337 intron variant C/T snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs13271228
rs13271228
TRPS1
2 8 115585182 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs73204034
rs73204034 		2 12 116401216 regulatory region variant C/T snv 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11580646
rs11580646
TENT5C
2 1 117619797 intron variant C/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs143034248
rs143034248
JAML
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs11992162
rs11992162 		2 8 11979005 upstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4837892
rs4837892
TTLL11
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs7650082
rs7650082 		2 3 12226280 intergenic variant T/G snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs144110170
rs144110170 		2 11 122649353 regulatory region variant C/- delins 0.13 0.700 1.000 1 2016 2016
dbSNP: rs55793580
rs55793580 		2 9 124247116 regulatory region variant C/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs10987830
rs10987830 		2 9 128016459 intergenic variant G/A snv 6.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs34834119
rs34834119
ETS1
2 11 128463122 intron variant AT/- del 0.26 0.700 1.000 1 2016 2016
dbSNP: rs117758012
rs117758012
MAST1 ; HOOK2
3 1.000 0.080 19 12846836 intron variant C/T snv 4.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs9880192
rs9880192 		5 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 0.700 1.000 3 2011 2017
dbSNP: rs6772849
rs6772849 		2 3 128587575 intergenic variant T/A;C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs2734037
rs2734037 		2 3 128590041 intergenic variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs6782228
rs6782228 		7 3 128604581 intergenic variant G/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2712381
rs2712381
RPN1
2 3 128619757 downstream gene variant A/C snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs55683935
rs55683935
RPN1
2 3 128630533 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10956483
rs10956483
CCDC26
3 8 129559864 intron variant G/A;C snv 0.700 1.000 1 2011 2011