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: rs10507047
rs10507047
FGD6
2 0.925 0.040 12 95210514 missense variant T/C snv 0.12 0.11 0.700 1.000 1 2015 2015
dbSNP: rs2295334
rs2295334
C6orf223 ; LOC101929705
2 0.925 0.040 6 44003090 synonymous variant G/A snv 5.0E-02 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs4482537
rs4482537 		2 0.925 0.040 2 48825116 intron variant C/T snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs75165563
rs75165563
EXOC5
2 0.925 0.040 14 57220928 intron variant A/C snv 4.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs8002574
rs8002574
LHFPL6 ; LOC105370170
2 0.925 0.040 13 39504403 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12661281
rs12661281
CYP21A2 ; SLC44A4
3 0.882 0.040 6 31874821 missense variant T/A snv 0.15 0.11 0.700 1.000 1 2015 2015
dbSNP: rs2284665
rs2284665
HTRA1
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs28368872
rs28368872 		3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.700 1.000 1 2018 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
COL4A3 ; MFF-DT
4 0.851 0.040 2 227222204 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12019136
rs12019136
FUT6
4 0.851 0.040 19 5835666 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs12357257
rs12357257
ARHGAP21
4 0.851 0.040 10 24710664 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs140647181
rs140647181
LOC105374007
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
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: 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
CYP21A2 ; STK19
4 0.851 0.040 6 31979250 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs187328863
rs187328863
KCNT2
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
CFHR5
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
RAD51B
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
ARMS2 ; LOC105378525
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs55975637
rs55975637
COL8A1
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016