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: rs2734031
rs2734031 		1 3 128582547 intergenic variant T/C snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs2802372
rs2802372
ZMIZ1
1 10 79287818 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2860773
rs2860773
LOC105374780
1 2 65438507 intron variant G/T snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs5747327
rs5747327
BCL2L13
1 22 17686446 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs77936863
rs77936863
CD300LF ; RAB37
1 17 74700954 intron variant A/- del 0.54 0.700 1.000 1 2016 2016
dbSNP: rs930232
rs930232
CNN2
1 19 1036019 intron variant G/A;C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs9872440
rs9872440
ACKR2 ; KRBOX1
1 3 42854959 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs113977268
rs113977268
CASC15 ; LOC105374971
2 6 22359286 intron variant G/A snv 5.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1025687
rs1025687
MAPK4
3 18 50621423 intron variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs11741826
rs11741826
CCDC125
3 5 69294573 intron variant G/A;C snv 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: rs12936529
rs12936529
PIGL
3 17 16265470 intron variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs1969949
rs1969949
DOCK8
3 9 305428 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs200476039
rs200476039
EML6
3 2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs28476539
rs28476539
SCD5
3 4 82631138 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs305082
rs305082
IRF8
3 16 85903372 non coding transcript exon variant T/C snv 0.28 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: rs4924590
rs4924590
EHD4
3 15 41941475 intron variant T/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs5820258
rs5820258
ARHGAP23
3 17 38437623 intron variant CC/-;C;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016
dbSNP: rs62312418
rs62312418
CXCL6
3 4 73835795 upstream gene variant G/A snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7405635
rs7405635 		3 17 40204299 regulatory region variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7575217
rs7575217
TBC1D8
3 2 101160470 intron variant A/G snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs796415138
rs796415138
MAST2
3 1 45860202 intron variant CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA delins 0.42 0.700 1.000 1 2016 2016
dbSNP: rs8068017
rs8068017 		3 17 1417822 downstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089 		4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016