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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2010 2010
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11567847
rs11567847
TEAD1
3 0.925 0.120 11 12937202 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs17593222
rs17593222
STAT3
3 0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs201654095
rs201654095
CACNA1F
4 0.882 0.160 X 49224864 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs3766404
rs3766404
CFH
2 1.000 0.040 1 196682702 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs61750172
rs61750172
GUCY2D
8 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs867770797
rs867770797
EDNRA
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs9463772
rs9463772
IL17F
3 0.925 0.240 6 52246993 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2013 2013