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: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 3 2011 2018
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 3 2011 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: 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: rs13149993
rs13149993 		6 4 80237391 regulatory region variant G/A;C snv 0.700 1.000 2 2015 2018
dbSNP: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 2 2011 2018
dbSNP: rs1401982
rs1401982
ATP2B1
4 12 89595822 intron variant G/A snv 0.60 0.700 1.000 2 2018 2018
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: 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: 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: 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: 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