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: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.720 1.000 4 2012 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.030 1.000 3 2008 2016
dbSNP: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.710 1.000 2 2012 2019
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.710 1.000 2 2012 2012
dbSNP: rs114092250
rs114092250 		4 0.851 0.040 5 35494346 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs114254831
rs114254831
PBX2
5 0.827 0.040 6 32187804 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116503776
rs116503776
CYP21A2 ; SKIV2L
5 0.827 0.040 6 31962685 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11884770
rs11884770
COL4A3 ; MFF-DT
4 0.851 0.040 2 227222204 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918567
rs121918567
PRPH2
6 0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs1626340
rs1626340 		5 0.827 0.120 9 99161090 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17231506
rs17231506
CETP
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.010 1.000 1 2001 2001
dbSNP: rs181705462
rs181705462
CYP21A2 ; STK19
4 0.851 0.040 6 31979250 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs55975637
rs55975637
COL8A1
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs5817082
rs5817082
CETP
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs61941274
rs61941274
ACAD10
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62358361
rs62358361
C9
5 0.851 0.040 5 39327786 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs71507014
rs71507014
TRPM3
4 0.851 0.040 9 70823689 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs722782
rs722782 		1 1.000 0.040 8 566479 intergenic variant A/C;T snv 0.010 1.000 1 2014 2014