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: rs722782
rs722782
1 1.000 0.040 8 566479 intergenic variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs749856572
rs749856572
1 1.000 0.040 14 67835182 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1789110
rs1789110
2 0.925 0.040 18 77147088 regulatory region variant C/A snv 0.63 0.710 1.000 2 2012 2014
dbSNP: rs2842992
rs2842992
2 0.925 0.040 6 159650127 intron variant G/A snv 0.73 0.710 1.000 2 2012 2014
dbSNP: rs1253615192
rs1253615192
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1460548929
rs1460548929
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs151207349
rs151207349
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs28368872
rs28368872
3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.010 1.000 1 2018 2018
dbSNP: rs142450006
rs142450006
4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.710 1.000 2 2016 2018
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: rs114092250
rs114092250
4 0.851 0.040 5 35494346 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11884770
rs11884770
4 0.851 0.040 2 227222204 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12019136
rs12019136
4 0.851 0.040 19 5835666 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs12357257
rs12357257
4 0.851 0.040 10 24710664 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs140647181
rs140647181
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs148553336
rs148553336
4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs181705462
rs181705462
4 0.851 0.040 6 31979250 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs187328863
rs187328863
4 0.851 0.040 1 196411028 intron variant C/T snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs201459901
rs201459901
4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2842339
rs2842339
4 0.851 0.040 14 68520282 intron variant G/A snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs35292876
rs35292876
CFH
4 0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs55975637
rs55975637
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016