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: rs4635554
rs4635554 		1 2 21166787 intergenic variant T/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs7016880
rs7016880 		2 8 20019235 intergenic variant G/C snv 8.5E-02 0.800 1.000 1 2010 2010
dbSNP: rs10808546
rs10808546 		7 8 125483576 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10911205
rs10911205
LAMC1
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10911232
rs10911232
LAMC1
1 1 183083398 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1558861
rs1558861 		5 11 116736721 regulatory region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs3825041
rs3825041
BUD13
2 11 116760991 intron variant T/A;C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs672059
rs672059
LAMC2
1 1 183193404 intron variant G/A snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs6982502
rs6982502 		6 0.882 0.080 8 125467120 intron variant C/T snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs9644568
rs9644568 		3 8 20071071 intergenic variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs9949617
rs9949617
TMEM241
2 18 23299253 intron variant C/T snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1057156731
rs1057156731
LMNA
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000