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: rs9995997
rs9995997 		1 4 72661796 intergenic variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs9993613
rs9993613 		1 4 72610297 intergenic variant T/G snv 0.42 0.700 1.000 2 2014 2019
dbSNP: rs998203
rs998203
IGF2R
1 6 160096856 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs9976812
rs9976812 		1 21 38318323 intergenic variant C/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs9969804
rs9969804
IPPK
2 9 92666838 intron variant A/C snv 0.68 0.700 1.000 1 2010 2010
dbSNP: rs9967417
rs9967417
DYM
2 18 49433130 intron variant G/C;T snv 0.700 1.000 2 2010 2013
dbSNP: rs9956387
rs9956387
SKOR2
1 18 47247011 missense variant A/G;T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs9954741
rs9954741
RIOK3
1 18 23459429 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs994533
rs994533
DIRC3
1 2 217419555 intron variant G/C snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs994532
rs994532
DIRC3
1 2 217419487 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9941239
rs9941239 		1 16 84954341 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9940899
rs9940899
UTP4
1 16 69136024 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs994014
rs994014 		3 4 81244636 intergenic variant T/C snv 0.43 0.700 1.000 3 2011 2019
dbSNP: rs9921222
rs9921222
AXIN1
5 0.925 0.120 16 325782 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs991967
rs991967
TGFB2 ; TGFB2-OT1
2 1 218442109 3 prime UTR variant A/C snv 0.37 0.700 1.000 2 2014 2019
dbSNP: rs9912468
rs9912468
PRKCA
3 17 66322239 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9909247
rs9909247
SEPTIN9
1 17 77378449 intron variant T/C snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs9904970
rs9904970
TANC2
1 17 63123997 intron variant G/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs9903269
rs9903269 		1 17 39586130 intergenic variant A/T snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs9902820
rs9902820
TEX14
1 17 58560184 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9901941
rs9901941 		1 17 45179096 intergenic variant T/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs9901434
rs9901434
GRB2
1 17 75392689 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9900387
rs9900387
SYNGR2
1 17 78168323 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs989657
rs989657
SOX5
1 12 24013492 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs989393
rs989393
COL15A1
1 9 98981054 intron variant T/C snv 0.35 0.700 1.000 1 2019 2019