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: rs4948106
rs4948106 		2 7 56099902 downstream gene variant T/G snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs56335308
rs56335308
SLC7A2
2 8 17561952 missense variant G/A snv 1.8E-02 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs588682
rs588682
DLGAP1
2 18 3558080 intron variant G/A snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs61997624
rs61997624
ASPG ; MIR203A
2 14 104116049 upstream gene variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs62149891
rs62149891
CCT4
3 2 61877999 intron variant A/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs651797
rs651797 		2 2 210992001 intergenic variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs6966061
rs6966061 		2 7 55781097 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs7008481
rs7008481 		2 8 17574169 upstream gene variant G/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs7302925
rs7302925
MIP ; SPRYD4
3 12 56467674 intron variant A/G snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs75444260
rs75444260
PRKAR1B
3 7 635944 intron variant A/G snv 8.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs774211
rs774211
RBMS2
4 12 56527155 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs7782243
rs7782243 		2 7 56114152 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7793921
rs7793921
CCT6A ; PSPH
3 7 56053188 intron variant G/A snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs7838611
rs7838611
SLC7A2
1 8 17565208 3 prime UTR variant A/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs78985461
rs78985461
PAH
2 12 102901858 intron variant G/A snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs8059153
rs8059153
PKD1L2
2 16 81112070 non coding transcript exon variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs816396
rs816396 		2 7 56169587 intergenic variant T/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs816411
rs816411
CHCHD2
3 1.000 0.040 7 56103796 intron variant C/T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs9549153
rs9549153
LINC00598
2 13 40293411 intron variant G/A snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs9792282
rs9792282
PDGFRL
1 8 17580930 intron variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2016 2016
dbSNP: rs10083777
rs10083777
CENPN ; LOC107984858
2 16 81031677 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10466351
rs10466351 		3 11 92964815 upstream gene variant C/T snv 0.48 0.700 1.000 1 2016 2016