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: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.820 1.000 3 2010 2018
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.810 1.000 2 2010 2015
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.810 1.000 2 2010 2015
dbSNP: rs1428826948
rs1428826948
APOL1
3 0.925 0.040 22 36265940 synonymous variant T/G snv 1.2E-05 0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1569534160
rs1569534160
APOL1
3 0.925 0.040 22 36265812 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1202430946
rs1202430946
IGHMBP2
17 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.040 1.000 4 2015 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.040 0.750 4 2015 2018
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.020 1.000 2 2011 2012
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs10766196
rs10766196
CYP2R1
2 0.925 0.120 11 14891585 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10766197
rs10766197
CYP2R1
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1155563
rs1155563
GC
4 0.925 0.080 4 71777771 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs121918237
rs121918237
SLC34A3
2 0.925 0.240 9 137233234 missense variant G/A;T snv 6.5E-05; 2.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2019 2019
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1459015
rs1459015 		1 1.000 0.040 11 13500728 upstream gene variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019