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: rs4607001
rs4607001
LOC105372562 ; LOC105372563
1 1.000 0.080 20 22467899 intron variant C/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs529138199
rs529138199
NCAM2
1 1.000 0.080 21 21005810 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs561726060
rs561726060
LOC105372018
1 1.000 0.080 18 22263993 regulatory region variant C/T snv 4.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs571866661
rs571866661 		1 1.000 0.080 11 77315297 downstream gene variant TTTTTTTTTTTTTTTTT/-;T;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs60856912
rs60856912
BPTF
1 1.000 0.080 17 67896227 intron variant G/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs6149499
rs6149499
LOC101929006 ; LOC105375005
1 1.000 0.080 6 29288284 intron variant AT/-;ATAT;ATATAT;ATATATCATGTATATATATATATAT;ATATCATGTATATATATATATAT delins 0.700 1.000 1 2018 2018
dbSNP: rs6782972
rs6782972
RARB
2 0.925 0.080 3 24922859 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs7405776
rs7405776
HNF1B
6 0.807 0.120 17 37733029 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs757209
rs757209
HNF1B
1 1.000 0.080 17 37742842 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs757211
rs757211
HNF1B
1 1.000 0.080 17 37736488 intron variant T/C snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs7579014
rs7579014
BCL11A
2 1.000 0.080 2 60480759 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs76165228
rs76165228
PPP1R14C
1 1.000 0.080 6 150198039 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs79024726
rs79024726
CSMD2
1 1.000 0.080 1 33832760 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7981863
rs7981863 		1 1.000 0.080 13 73238004 intergenic variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs8064454
rs8064454
HNF1B
2 0.925 0.120 17 37741595 intron variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs819913
rs819913
PLPPR4
1 1.000 0.080 1 99299799 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs872267
rs872267
EEFSEC
1 1.000 0.080 3 128169224 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs882380
rs882380
SKAP1
1 1.000 0.080 17 48216874 intron variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs9600103
rs9600103 		1 1.000 0.080 13 73237742 intergenic variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs9639594
rs9639594
CPVL
1 1.000 0.080 7 29139570 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs9668337
rs9668337
SSPN ; LOC105369704 ; LOC105369705
1 1.000 0.080 12 26273405 non coding transcript exon variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0