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: rs1319782
rs1319782
2 0.925 0.200 1 110668911 downstream gene variant C/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2640480
rs2640480
2 0.925 0.200 1 110670626 downstream gene variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2840381
rs2840381
2 0.925 0.200 1 110675201 upstream gene variant G/A snv 0.73 0.010 1.000 1 2011 2011
dbSNP: rs7045953
rs7045953
2 0.925 0.200 9 117723517 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs189159450
rs189159450
1 1.000 0.160 11 119088285 missense variant C/G;T snv 4.0E-06; 1.6E-05 2.1E-05 0.700 0
dbSNP: rs998842815
rs998842815
1 1.000 0.160 11 119088297 missense variant C/T snv 4.0E-06 0.700 1.000 20 1991 2015
dbSNP: rs118204103
rs118204103
1 1.000 0.160 11 119088298 missense variant G/A snv 0.700 0
dbSNP: rs118204104
rs118204104
1 1.000 0.160 11 119088638 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs118204105
rs118204105
1 1.000 0.160 11 119088647 missense variant C/A snv 0.700 0
dbSNP: rs974712040
rs974712040
1 1.000 0.160 11 119088651 missense variant C/T snv 0.710 1.000 1 2000 2000
dbSNP: rs118204106
rs118204106
1 1.000 0.160 11 119089084 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs1565754285
rs1565754285
1 1.000 0.160 11 119089094 frameshift variant C/- delins 0.700 0
dbSNP: rs761004837
rs761004837
2 1.000 0.160 11 119089097 missense variant C/T snv 1.1E-04 4.9E-05 0.710 1.000 1 2008 2008
dbSNP: rs1565754296
rs1565754296
1 1.000 0.160 11 119089098 frameshift variant -/G delins 0.700 0
dbSNP: rs1565754452
rs1565754452
1 1.000 0.160 11 119089216 splice acceptor variant G/A snv 0.700 0
dbSNP: rs118204119
rs118204119
1 1.000 0.160 11 119089248 missense variant T/C snv 0.700 0
dbSNP: rs150763621
rs150763621
1 1.000 0.160 11 119089263 stop gained A/T snv 8.3E-04 5.0E-04 0.700 1.000 20 1991 2015
dbSNP: rs1565754565
rs1565754565
1 1.000 0.160 11 119089273 splice donor variant G/C snv 0.700 0
dbSNP: rs757988130
rs757988130
1 1.000 0.160 11 119089686 stop gained G/A snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs118204107
rs118204107
1 1.000 0.160 11 119089747 missense variant G/A snv 0.710 1.000 1 1999 1999
dbSNP: rs118204094
rs118204094
1 1.000 0.160 11 119089991 missense variant C/T snv 4.0E-06 7.0E-06 0.830 1.000 22 1991 2015
dbSNP: rs1165046276
rs1165046276
1 1.000 0.160 11 119089992 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 20 1991 2015
dbSNP: rs551209435
rs551209435
1 1.000 0.160 11 119090041 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs118204120
rs118204120
1 1.000 0.160 11 119090212 stop gained C/T snv 0.700 0
dbSNP: rs118204098
rs118204098
1 1.000 0.160 11 119090213 missense variant G/A snv 0.800 1.000 20 1991 2015