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: rs58788673
rs58788673 		7 0.807 0.080 7 46864701 intergenic variant -/CA ins 0.22 0.700 1.000 1 2017 2017
dbSNP: rs200644307
rs200644307 		6 0.827 0.080 X 67081072 intergenic variant -/CATAAATATGTGTATATATA;CATAAATATGTGTATATATGTGTATATATACATAAATATGTGTATATATA delins 0.700 1.000 1 2016 2016
dbSNP: rs572756998
rs572756998
ARL17B
6 0.827 0.080 17 46288155 intron variant -/TTCTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs34991987
rs34991987
LOC105375343
7 0.807 0.080 7 69130240 downstream gene variant A/-;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs34624408
rs34624408 		6 0.827 0.080 6 9333352 intergenic variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017
dbSNP: rs12373168
rs12373168
SPPL2C ; MAPT-AS1
2 1.000 0.080 17 45846971 3 prime UTR variant A/C snv 0.16 0.20 0.700 1.000 1 2012 2012
dbSNP: rs12854385
rs12854385
OPHN1
1 1.000 0.080 X 68166102 intron variant A/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs169311
rs169311 		2 0.925 0.240 20 21981695 regulatory region variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1884589
rs1884589 		1 1.000 0.080 20 21904981 intergenic variant A/C snv 0.61 0.700 1.000 1 2012 2012
dbSNP: rs200369
rs200369
LINC01427
1 1.000 0.080 20 22284460 upstream gene variant A/C snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs2497928
rs2497928 		1 1.000 0.080 X 67428374 intergenic variant A/C snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs2497930
rs2497930 		1 1.000 0.080 X 67432862 intergenic variant A/C snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs4562482
rs4562482 		1 1.000 0.080 X 67957918 intergenic variant A/C snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs4815066
rs4815066 		1 1.000 0.080 20 21809437 regulatory region variant A/C snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs552965964
rs552965964
MAPT
2 1.000 0.080 17 45987393 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs566628150
rs566628150
KANSL1
2 1.000 0.080 17 46182173 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs571568457
rs571568457
KANSL1
2 1.000 0.080 17 46171730 synonymous variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs6036037
rs6036037 		1 1.000 0.080 20 22089887 intergenic variant A/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs6047683
rs6047683 		1 1.000 0.080 20 21872555 intergenic variant A/C snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs6047761
rs6047761 		1 1.000 0.080 20 21957644 intron variant A/C snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs6047978
rs6047978 		1 1.000 0.080 20 22258810 downstream gene variant A/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs6082513
rs6082513 		1 1.000 0.080 20 21800334 intergenic variant A/C snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs6113491
rs6113491 		2 0.925 0.080 20 22076777 downstream gene variant A/C snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs708997
rs708997 		1 1.000 0.080 20 22146410 intergenic variant A/C snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs804529
rs804529 		1 1.000 0.080 20 22145246 regulatory region variant A/C snv 0.97 0.700 1.000 1 2012 2012