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: rs56235204
rs56235204
INPP5D
1 2 233205887 intron variant T/- del 0.19 0.700 1.000 1 2016 2016
dbSNP: rs10542411
rs10542411 		2 2 61541105 upstream gene variant ATATT/-;ATATTATATT delins 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10667251
rs10667251 		4 0.925 0.080 17 49388381 intron variant -/TCT delins 0.47 0.700 1.000 1 2016 2016
dbSNP: rs11317778
rs11317778
CHD1
1 5 98905525 intron variant AAA/-;AA;AAAA delins 0.27 0.700 1.000 1 2016 2016
dbSNP: rs11319879
rs11319879
HHEX
2 10 92693719 intron variant A/- delins 0.53 0.700 1.000 1 2016 2016
dbSNP: rs11327184
rs11327184
CCDC26
4 8 129592027 intron variant C/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs11353326
rs11353326
ARIH2
2 3 48941172 intron variant AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11359909
rs11359909 		4 3 128603031 intergenic variant G/- delins 0.89 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: rs140948517
rs140948517
RHBDD2
2 7 75857462 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT 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: rs147934515
rs147934515
BCL2A1
1 15 79966818 intron variant CAGGAAGGCAGGAAGGCAGGAAGG/-;CAGGAAGGCAGGAAGG;CAGGAAGGCAGGAAGGCAGGAAGGCAGGAAGG delins 0.700 1.000 1 2016 2016
dbSNP: rs150929054
rs150929054
HM13 ; HM13-AS1 ; LOC107985416
1 20 31574549 intron variant ATTTATTTATTT/-;ATTTATTT delins 1.4E-02 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: rs34020101
rs34020101
IL18RAP
2 2 102435015 non coding transcript exon variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs34025520
rs34025520 		1 7 20543533 intergenic variant TTC/- delins 0.19 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: rs34149660
rs34149660 		2 9 133001720 intergenic variant AAAAAAAAAAAAA/-;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA delins 0.31 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