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: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 3 2018 2018
dbSNP: rs35443
rs35443 		5 12 115115073 intergenic variant G/C snv 0.40 0.700 1.000 3 2018 2018
dbSNP: rs4980389
rs4980389
LSP1
5 11 1871355 5 prime UTR variant G/A snv 0.35 0.700 1.000 3 2018 2018
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 2 2018 2018
dbSNP: rs1105956
rs1105956 		2 6 126825734 intron variant G/A snv 0.44 0.700 1.000 2 2018 2018
dbSNP: rs111478946
rs111478946
ATP2B1
4 12 89665065 intron variant G/A snv 0.14 0.700 1.000 2 2018 2018
dbSNP: rs11191871
rs11191871
LOC102724351
2 10 103947673 intergenic variant A/G snv 5.2E-02 0.700 1.000 2 2018 2018
dbSNP: rs112913898
rs112913898 		3 10 103199143 intergenic variant G/A snv 9.1E-02 0.700 1.000 2 2018 2018
dbSNP: rs1177765
rs1177765 		3 5 32829823 intergenic variant T/C snv 0.50 0.700 1.000 2 2018 2018
dbSNP: rs1401982
rs1401982
ATP2B1
4 12 89595822 intron variant G/A snv 0.60 0.700 1.000 2 2018 2018
dbSNP: rs16896398
rs16896398
SLC22A7
5 6 43294966 upstream gene variant A/T snv 0.42 0.700 1.000 2 2018 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: 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: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 2 2018 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: 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
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 2 2018 2018
dbSNP: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 2 2018 2018
dbSNP: rs72806698
rs72806698
EML6
3 2 54742242 intron variant C/T snv 0.13 0.700 1.000 2 2018 2018