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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.700 1.000 2 2012 2016
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: rs10781182
rs10781182 		4 0.851 0.040 9 74002804 intergenic variant T/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs11080055
rs11080055
TMEM97
5 0.851 0.040 17 28322698 intron variant A/C 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: rs1142
rs1142
SRPK2
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 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: 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: 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: 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: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 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: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 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: 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: 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: rs2284665
rs2284665
HTRA1
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.700 1.000 1 2017 2017
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: rs28368872
rs28368872 		3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.700 1.000 1 2018 2018