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: rs138488218
rs138488218 		4 12 53354069 regulatory region variant A/T snv 7.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs60606273
rs60606273 		5 15 64362768 intron variant A/T snv 0.84 0.700 1.000 1 2016 2016
dbSNP: rs675600
rs675600
LINC02210 ; LINC02210-CRHR1
4 17 45618793 upstream gene variant A/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314
CHD7
5 8 60738272 intron variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs34762051
rs34762051 		5 17 40007650 downstream gene variant AA/-;A;AAA delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs398032702
rs398032702
C18orf25
4 18 46245574 intron variant AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs34061361
rs34061361
FLT3
5 13 28044450 intron variant AAA/-;A;AA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs575404063
rs575404063 		4 19 18405498 intergenic variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
5 18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs552557467
rs552557467 		4 11 47927817 regulatory region variant AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA delins 0.47 0.700 1.000 1 2016 2016
dbSNP: rs377079849
rs377079849
CHD3 ; NAA38
3 17 7884458 intron variant ATATATATATAT/-;AT;ATAT;ATATAT;ATATATAT;ATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT;ATATATATATATATATATATATAT;ATATATATATATATATATATATATAT;ATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATAT delins 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11361923
rs11361923
NOXRED1
4 14 77396337 intron variant C/- delins 0.54 0.700 1.000 1 2016 2016
dbSNP: rs11920354
rs11920354
KIF9-AS1
3 3 47220756 intron variant C/A snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914
ZBTB16
5 11 114113387 intron variant C/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs778387
rs778387 		4 1 56158423 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11734460
rs11734460
PCGF3
4 4 711285 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs111930700
rs111930700
ACVR1B
4 12 51967869 intron variant C/G snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12542907
rs12542907 		5 8 67900953 intergenic variant C/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1991651
rs1991651
LOC101929248
4 8 10848901 downstream gene variant C/G snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs3917932
rs3917932
CSF3R
5 1 36478315 intron variant C/G snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1144700
rs1144700
ATXN1
5 6 16744456 intron variant C/G;T snv 0.700 1.000 1 2016 2016