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: rs11428934
rs11428934
CA11 ; SEC1P
4 19 48640988 intron variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924 		5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs58548501
rs58548501 		4 4 54635119 intergenic variant -/A;ATTTTTTTTTA ins 0.43 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: rs11361923
rs11361923
NOXRED1
4 14 77396337 intron variant C/- delins 0.54 0.700 1.000 1 2016 2016
dbSNP: rs11405616
rs11405616
NDFIP1
4 5 142130697 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs139707092
rs139707092
SPC25 ; NOSTRIN
5 2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 0.700 1.000 1 2016 2016
dbSNP: rs146318841
rs146318841
AHI1
4 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG 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: 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: rs200638392
rs200638392 		5 6 87128241 intergenic variant GAT/-;GATGAT delins 0.47 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: rs34208856
rs34208856
HBS1L
6 6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 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: 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: rs397731840
rs397731840
CCDC26
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 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: 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: rs575404063
rs575404063 		4 19 18405498 intergenic variant AAA/-;A;AA;AAAA;AAAAA delins 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: 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: rs10075801
rs10075801
SLC22A4 ; MIR3936HG
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10138752
rs10138752
RAD51B
5 14 68713254 intron variant C/T snv 8.8E-02 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