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: rs548181
rs548181
STT3A ; FEZ1 ; STT3A-AS1
5 0.851 0.040 11 125591814 5 prime UTR variant A/G snv 0.83 0.810 1.000 3 2011 2015
dbSNP: rs6878284
rs6878284
SLCO6A1
2 0.925 0.040 5 102434022 intron variant C/T snv 0.64 0.810 0.667 3 2013 2016
dbSNP: rs12666575
rs12666575
MAD1L1
1 1.000 0.040 7 1964786 intron variant C/G;T snv 0.810 1.000 2 2012 2016
dbSNP: rs17512836
rs17512836
TCF4
3 0.925 0.040 18 55527730 intron variant T/C snv 2.2E-02 0.810 1.000 2 2011 2014
dbSNP: rs2239547
rs2239547
ITIH4
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.810 1.000 2 2011 2014
dbSNP: rs16887244
rs16887244
LSM1
1 1.000 0.040 8 38173827 intron variant A/G snv 0.20 0.810 1.000 1 2011 2011
dbSNP: rs7527939
rs7527939
HHAT
1 1.000 0.040 1 210362681 intron variant C/T snv 0.30 0.810 1.000 1 2013 2013
dbSNP: rs17693963
rs17693963 		5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.800 1.000 6 2009 2014
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.800 1.000 6 2013 2019
dbSNP: rs2910032
rs2910032
LINC01470
2 1.000 0.040 5 153160794 intron variant C/T snv 0.52 0.800 1.000 5 2013 2019
dbSNP: rs778371
rs778371
NGEF ; SNORC
1 1.000 0.040 2 232878399 non coding transcript exon variant A/G snv 0.27 0.800 1.000 5 2013 2019
dbSNP: rs950169
rs950169
ADAMTSL3
2 1.000 0.040 15 84037709 missense variant C/T snv 0.22 0.19 0.800 1.000 5 2009 2019
dbSNP: rs14403
rs14403
AKT3 ; SDCCAG8
1 1.000 0.040 1 243500591 3 prime UTR variant C/T snv 0.17 0.800 1.000 3 2013 2019
dbSNP: rs2949006
rs2949006
FTCDNL1
2 1.000 0.040 2 199850665 intron variant T/C;G snv 0.800 1.000 3 2013 2019
dbSNP: rs6932590
rs6932590 		2 1.000 0.040 6 27281152 downstream gene variant T/C snv 0.26 0.800 1.000 3 2009 2011
dbSNP: rs10503256
rs10503256
CSMD1
1 1.000 0.040 8 4356657 intron variant A/G snv 0.57 0.800 1.000 2 2011 2012
dbSNP: rs11220082
rs11220082
FEZ1
1 1.000 0.040 11 125454069 intron variant C/T snv 0.46 0.800 1.000 2 2011 2012
dbSNP: rs12592967
rs12592967
LOC107984782
2 1.000 0.040 15 61578744 intron variant C/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs13025591
rs13025591
AGAP1
1 1.000 0.040 2 235886699 intron variant A/C snv 0.37 0.800 1.000 2 2009 2012
dbSNP: rs13194053
rs13194053 		1 1.000 0.040 6 27176104 intergenic variant T/C snv 0.14 0.800 1.000 2 2009 2009
dbSNP: rs1502844
rs1502844 		1 1.000 0.040 5 102523613 regulatory region variant C/T snv 0.66 0.800 1.000 2 2009 2011
dbSNP: rs16897515
rs16897515
POM121L2 ; LOC105375107
2 1.000 0.040 6 27310241 missense variant C/A snv 0.13 0.18 0.800 1.000 2 2009 2013
dbSNP: rs171748
rs171748
SMIM15-AS1 ; LINC02057
2 1.000 0.040 5 61203304 intron variant A/G snv 0.60 0.800 1.000 2 2013 2017
dbSNP: rs17691888
rs17691888
CACNB2
1 1.000 0.040 10 18445599 intron variant G/A snv 0.16 0.800 1.000 2 2013 2019
dbSNP: rs2021722
rs2021722
TRIM26
5 0.851 0.040 6 30206354 intron variant C/A;T snv 0.24 0.800 1.000 2 2011 2013