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: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs10962692
rs10962692 		3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991
HNF1B
17 0.708 0.280 17 37741642 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs144962376
rs144962376
MLLT10
2 0.925 0.120 10 21589903 intron variant CCCCTT/-;CCCCTTCCCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs147527678
rs147527678 		17 0.708 0.280 6 32699696 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7405776
rs7405776
HNF1B
6 0.807 0.120 17 37733029 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs8098244
rs8098244
LAMA3
2 0.925 0.120 18 23825589 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1411105125
rs1411105125
MAST1
1 1.000 0.040 19 12873875 missense variant C/T snv 0.700 0
dbSNP: rs1490428165
rs1490428165
TEK
1 1.000 0.040 9 27209192 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs199897804
rs199897804
CDKL5
1 1.000 0.040 X 18604645 missense variant C/A;T snv 4.9E-05 0.700 0
dbSNP: rs746442213
rs746442213
ALK
1 1.000 0.040 2 29232307 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs1279653488
rs1279653488
ERN1
1 1.000 0.040 17 64047898 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs540521894
rs540521894
NTRK1
1 1.000 0.040 1 156864760 missense variant C/A;T snv 4.0E-06; 5.6E-05 2.1E-05 0.700 0