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: rs1707322
rs1707322 		2 1 46039475 downstream gene variant A/G snv 0.68 0.700 1.000 2 2017 2019
dbSNP: rs197412
rs197412
DDX20
2 1.000 0.080 1 111766331 missense variant T/C snv 0.43 0.49 0.700 1.000 2 2018 2018
dbSNP: rs2275426
rs2275426
MAST2
1 1 46021880 intron variant G/A snv 0.44 0.700 1.000 2 2015 2019
dbSNP: rs2296172
rs2296172
MACF1
4 1.000 0.080 1 39370145 missense variant A/G;T snv 0.19; 8.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs2815752
rs2815752
LOC105378797
7 0.925 0.200 1 72346757 intron variant G/A snv 0.62 0.700 1.000 2 2009 2010
dbSNP: rs2820315
rs2820315
LMOD1
5 0.882 0.040 1 201903136 intron variant C/T snv 0.23 0.700 1.000 2 2017 2017
dbSNP: rs3127553
rs3127553
AGBL4
2 1 48972333 intron variant G/A snv 0.65 0.700 1.000 2 2015 2018
dbSNP: rs34720381
rs34720381
PRRC2C
4 1 171486183 intron variant C/T snv 7.3E-02 0.700 1.000 2 2019 2019
dbSNP: rs4130548
rs4130548
DNAJB4 ; GIPC2
5 1.000 0.040 1 77998184 intron variant T/C snv 0.25 0.700 1.000 2 2017 2018
dbSNP: rs4512652
rs4512652
SEMA6C
1 1 151143214 intron variant G/C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs4582848
rs4582848
AGBL4
1 1 49846528 intron variant A/C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs516636
rs516636 		3 1 177886382 intron variant C/A snv 0.17 0.700 1.000 2 2012 2019
dbSNP: rs545608
rs545608
SEC16B ; CRYZL2P-SEC16B
4 0.925 0.040 1 177929986 intron variant G/C snv 0.20 0.700 1.000 2 2017 2019
dbSNP: rs574367
rs574367 		3 1 177904075 intron variant G/T snv 0.16 0.700 1.000 2 2014 2019
dbSNP: rs591120
rs591120
SEC16B ; CRYZL2P-SEC16B
3 1 177933618 missense variant G/A;C snv 4.0E-06; 0.42 0.700 1.000 2 2015 2018
dbSNP: rs61740466
rs61740466
NBL1 ; MICOS10 ; RPS14P3 ; MICOS10-NBL1
1 1 19608406 non coding transcript exon variant G/A snv 0.26 0.20 0.700 1.000 2 2019 2019
dbSNP: rs61813324
rs61813324
MEX3A
1 1 156080086 intron variant C/T snv 9.6E-02 0.700 1.000 2 2019 2019
dbSNP: rs61828641
rs61828641
RABGAP1L
1 1 174352859 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs6689335
rs6689335
LYPLAL1-AS1
3 1 219455340 intron variant T/C snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs7523668
rs7523668
HIVEP3
1 1 41942488 intron variant G/A snv 0.52 0.700 1.000 2 2019 2019
dbSNP: rs7531118
rs7531118
LOC105378797
7 1.000 0.080 1 72371556 intron variant T/C snv 0.40 0.700 1.000 2 2017 2017
dbSNP: rs7535528
rs7535528
PANK4
1 1 2512975 missense variant G/A snv 0.31 0.27 0.700 1.000 2 2015 2018
dbSNP: rs7550173
rs7550173
LOC105378797
2 1 72478934 intron variant A/C;T snv 0.700 1.000 2 2017 2018
dbSNP: rs77560793
rs77560793 		1 1 175032043 intergenic variant G/A snv 2.8E-02 0.700 1.000 2 2019 2019
dbSNP: rs945211
rs945211 		2 1 31726197 downstream gene variant G/C snv 0.66 0.700 1.000 2 2019 2019