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: rs1446468
rs1446468 		4 2 164106976 intron variant T/C snv 0.40 0.700 1.000 2 2011 2018
dbSNP: rs16896398
rs16896398
SLC22A7
5 6 43294966 upstream gene variant A/T snv 0.42 0.700 1.000 2 2018 2018
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2016
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs17608766
rs17608766
GOSR2 ; LRRC37A2
8 1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02 0.700 1.000 2 2011 2016
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 2 2016 2018
dbSNP: rs1887320
rs1887320 		6 20 10985350 intron variant G/A snv 0.46 0.700 1.000 2 2016 2018
dbSNP: rs2048765
rs2048765
HDAC4
2 2 239286459 intron variant A/G snv 9.6E-02 0.700 1.000 2 2018 2018
dbSNP: rs2067087
rs2067087
HOXA13 ; HOTTIP
6 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2240736
rs2240736
TBX2
4 17 61408032 non coding transcript exon variant C/T snv 0.64 0.68 0.700 1.000 2 2015 2018
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 2 2011 2018
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs284844
rs284844
WBP1L
3 10 102794772 intron variant A/G snv 0.82 0.700 1.000 2 2017 2018
dbSNP: rs34327
rs34327
CDKN1B
3 12 12720814 intron variant T/C snv 0.50 0.700 1.000 2 2018 2018
dbSNP: rs35021474
rs35021474
KCNK3
4 2 26693976 intron variant C/G snv 0.48 0.700 1.000 2 2018 2018
dbSNP: rs35444
rs35444 		6 12 115114632 intergenic variant A/G snv 0.38 0.700 1.000 2 2016 2018
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 2 2018 2018
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2017 2018
dbSNP: rs4462906
rs4462906 		3 3 27551369 upstream gene variant T/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs4684242
rs4684242
FGD5
4 3 14853598 intron variant G/C snv 0.20 0.700 1.000 2 2018 2018
dbSNP: rs4910498
rs4910498
SWAP70
4 11 9743956 intron variant A/T snv 0.61 0.700 1.000 2 2018 2018
dbSNP: rs4919669
rs4919669
ARL3
2 10 102712218 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs5762862
rs5762862
ZNRF3
4 22 28856744 intergenic variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs58190593
rs58190593
BORCS8-MEF2B ; MEF2B
2 19 19153129 intron variant C/T snv 0.16 0.700 1.000 2 2018 2018
dbSNP: rs6031431
rs6031431
JPH2
4 20 44166512 intron variant A/G snv 0.46 0.700 1.000 2 2018 2018