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: rs568700395
rs568700395 		1 17 28753031 upstream gene variant -/A;AA delins 0.700 1.000 1 2012 2012
dbSNP: rs58565441
rs58565441 		1 17 28753031 upstream gene variant -/A;AA delins 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs200351105
rs200351105
C18orf25
1 18 46262655 intron variant -/AA delins 0.700 1.000 1 2012 2012
dbSNP: rs531114901
rs531114901
ATR
1 3 142496336 intron variant -/ATATCT;ATCT;ATGTATATATATATACATGTATATATATATGTATATATATATATCT;CT delins 9.6E-04 0.700 1.000 1 2012 2012
dbSNP: rs35385468
rs35385468 		5 0.925 0.120 6 26101212 upstream gene variant -/C delins 9.7E-03 0.700 1.000 1 2012 2012
dbSNP: rs386406569
rs386406569 		5 0.925 0.120 6 26101212 upstream gene variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs36075013
rs36075013 		1 3 142281368 regulatory region variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs3215645
rs3215645
SPTB
1 14 64796872 intron variant -/T delins 0.44 0.700 1.000 1 2016 2016
dbSNP: rs67250268
rs67250268
H2AC6
4 6 26135269 intron variant A/-;AA delins 0.700 1.000 1 2012 2012
dbSNP: rs201794926
rs201794926
PPP1R16A
2 8 144485527 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2269906
rs2269906
UBTF ; LOC101926967
1 17 44216969 intron variant A/C snv 0.52 0.800 1.000 2 2012 2017
dbSNP: rs1010549
rs1010549 		1 6 164071351 intergenic variant A/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1036332
rs1036332
LINC01221
3 1 199043349 intron variant A/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs10457631
rs10457631 		2 6 135124041 intergenic variant A/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs10514898
rs10514898
KANSL1
1 17 46042270 non coding transcript exon variant A/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11066028
rs11066028
ALDH2
2 1.000 0.080 12 111807366 intron variant A/C snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs1150660
rs1150660 		5 0.925 0.120 6 26101212 upstream gene variant A/C snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs11713316
rs11713316 		1 3 142260277 intergenic variant A/C snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs1175549
rs1175549
SMIM1
1 1 3775163 intron variant A/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs11759062
rs11759062
HBS1L
1 6 135060110 intron variant A/C snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs12139373
rs12139373
RBBP5 ; TMEM81
1 1 205085751 upstream gene variant A/C snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs12195848
rs12195848
ARMC2
1 6 108957902 intron variant A/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs12201186
rs12201186 		3 0.925 0.120 6 25625367 downstream gene variant A/C snv 0.28 0.700 1.000 1 2012 2012
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