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: rs142450006
rs142450006 		4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs10922153
rs10922153
CFHR5
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 3 2010 2013
dbSNP: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.720 1.000 3 2014 2018
dbSNP: rs2014307
rs2014307
LOC105378525
2 0.925 0.160 10 122458116 intron variant T/G snv 0.63 0.710 1.000 3 2008 2010
dbSNP: rs3750848
rs3750848
ARMS2 ; LOC105378525
1 1.000 0.040 10 122455799 intron variant T/G snv 0.23 0.810 1.000 3 2010 2013
dbSNP: rs1329424
rs1329424
CFH
1 1.000 0.040 1 196677046 non coding transcript exon variant T/G snv 0.66 0.800 1.000 2 2010 2013
dbSNP: rs2280141
rs2280141
PLEKHA1
4 1.000 0.040 10 122433665 3 prime UTR variant T/G snv 0.56 0.700 1.000 2 2013 2013
dbSNP: rs2292627
rs2292627
PLEKHA1
1 1.000 0.040 10 122442149 3 prime UTR variant T/G snv 0.11 0.700 1.000 2 2013 2013
dbSNP: rs334353
rs334353
TGFBR1
1 1.000 0.040 9 99146083 intron variant T/G snv 0.25 0.810 1.000 2 2013 2019
dbSNP: rs1063355
rs1063355
HLA-DQB1 ; HLA-DQB1-AS1
5 0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs10754206
rs10754206 		1 1.000 0.040 1 196851794 intron variant T/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10781182
rs10781182 		4 0.851 0.040 9 74002804 intergenic variant T/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs139161960
rs139161960 		1 1.000 0.040 5 29538059 intergenic variant T/G snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs144351944
rs144351944
FILIP1L ; CMSS1
1 1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs16840607
rs16840607 		1 1.000 0.040 1 196853900 intron variant T/G snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs1971579
rs1971579
CFHR4 ; LOC105371675
1 1.000 0.040 1 196918051 intron variant T/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs2855552
rs2855552
RHO
1 1.000 0.040 3 129530082 intron variant T/G snv 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs3855964
rs3855964
KCNT2
2 1.000 0.040 1 196414986 intron variant T/G snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs436719
rs436719
CFHR1
1 1.000 0.040 1 196818614 upstream gene variant T/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs544167
rs544167
C2 ; CYP21A2
2 0.925 0.160 6 31922381 intron variant T/G snv 7.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs570618
rs570618
CFH
6 0.827 0.040 1 196687934 intron variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs61818925
rs61818925 		4 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs6695525
rs6695525 		1 1.000 0.040 1 196876391 intron variant T/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs7552547
rs7552547 		1 1.000 0.040 1 196867869 intron variant T/G snv 0.22 0.700 1.000 1 2013 2013