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: rs11653357
rs11653357
AP2B1
2 17 35596588 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs116778355
rs116778355
DOCK10
1 2 224951925 intron variant A/T snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11684299
rs11684299 		1 2 226432279 intergenic variant C/G;T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1172149
rs1172149
TMCC2
2 1 205255630 intron variant A/G snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs11731274
rs11731274 		2 4 6889728 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11765583
rs11765583
ELMO1
1 7 37401657 intron variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs117672662
rs117672662
ACTN1
3 14 68958750 intron variant T/C snv 7.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs117748422
rs117748422
GRTP1 ; GRTP1-AS1
1 13 113358194 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs11822910
rs11822910
SLC43A3
1 11 57428444 upstream gene variant G/A snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs12094497
rs12094497
FCER1G
1 1 161216513 intron variant G/A snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs12445050
rs12445050
PLCG2
3 16 81837364 intron variant C/T snv 9.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs12982781
rs12982781
MARK4
1 19 45283297 intron variant T/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs13097947
rs13097947
ANKRD28
1 3 15804504 intron variant T/C snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs13224082
rs13224082
CAPZA2
1 7 116875727 intron variant A/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs13424581
rs13424581
DOCK10
1 2 224879779 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs135009
rs135009 		1 22 43099733 regulatory region variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs13720
rs13720
CTSZ ; NELFCD
2 20 58995513 3 prime UTR variant G/A snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs138263
rs138263
MOV10L1
1 22 50144816 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs139141690
rs139141690
CUX1
3 7 101856650 intron variant G/A snv 2.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs139459946
rs139459946
CRKL
1 22 20925144 intron variant C/T snv 5.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs139473150
rs139473150
TUBB1
1 20 59024287 missense variant C/T snv 6.0E-05 1.6E-04 0.700 1.000 1 2016 2016
dbSNP: rs140426714
rs140426714 		1 8 19998334 intergenic variant ATTTTT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs141152635
rs141152635
TUBB1
1 20 59022396 intron variant T/G snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs141207816
rs141207816
DAPK2
1 15 64057415 intron variant G/A snv 3.6E-03 0.700 1.000 1 2016 2016