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: rs147527678
rs147527678 		17 0.708 0.280 6 32699696 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1537372
rs1537372
CDKN2B-AS1
14 0.752 0.120 9 22103184 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16959063
rs16959063
FMN1 ; LOC107984089
9 0.790 0.080 15 32813529 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs17102823
rs17102823 		10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs174594
rs174594
FADS2
14 0.776 0.160 11 61852357 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs189583
rs189583 		10 0.776 0.080 20 6395810 regulatory region variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1912804
rs1912804
WWOX
9 0.790 0.080 16 78592686 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1963413
rs1963413
B9D2 ; TMEM91
10 0.776 0.080 19 41365668 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2250430
rs2250430
PLEKHG6
10 0.776 0.080 12 6312008 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2293581
rs2293581
GREM1 ; LOC100131315
10 0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs254563
rs254563
C5orf66
9 0.790 0.080 5 135104736 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2696839
rs2696839 		9 0.790 0.080 16 86306842 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2732875
rs2732875
SHROOM2
9 0.790 0.080 X 9795858 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs34405347
rs34405347 		10 0.776 0.080 9 98917470 regulatory region variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4407073
rs4407073 		9 0.790 0.080 16 80022910 intergenic variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4546885
rs4546885
LAMC1
9 0.790 0.080 1 183056420 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4711689
rs4711689
TFEB
9 0.790 0.080 6 41725074 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4768903
rs4768903
DIP2B
9 0.790 0.080 12 50651666 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4849303
rs4849303
ACOXL
9 0.790 0.080 2 110970905 intron variant C/G;T snv 0.700 1.000 1 2014 2014