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: rs603424
rs603424
PKD2L1
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1317947
rs1317947
MMP20 ; LOC101928477
2 1.000 0.080 11 102617342 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1423621991
rs1423621991
MMP1 ; WTAPP1
1 11 102796745 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.020 1.000 2 2009 2009
dbSNP: rs2282377
rs2282377
ASPG
2 1.000 0.080 14 104105483 intron variant C/G snv 0.12 0.12 0.700 1.000 1 2018 2018
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.030 1.000 3 2011 2015
dbSNP: rs1556446493
rs1556446493
COL4A5
3 X 108668328 missense variant G/T snv 0.700 0
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 2 2010 2012
dbSNP: rs2208338
rs2208338
ELOVL2
2 1.000 0.080 6 11028421 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs12194000
rs12194000
SLC22A16
2 1.000 0.080 6 110454809 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2012
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2010 2010
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs2074388
rs2074388
ALPK1
3 1.000 4 112431241 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074379
rs2074379
ALPK1
3 1.000 4 112431743 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074380
rs2074380
ALPK1
2 4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381
ALPK1
2 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs7901695
rs7901695
TCF7L2
6 0.851 0.160 10 112994329 intron variant T/C snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 0.500 2 2008 2014
dbSNP: rs6046
rs6046
F7
5 0.925 0.080 13 113118845 missense variant G/A;C;T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs814698
rs814698
ZNF618
2 1.000 0.080 9 113967563 intron variant A/T snv 0.22 0.700 1.000 1 2018 2018