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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1567202189
rs1567202189
PKD1
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs118203478
rs118203478
TSC1
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs771454167
rs771454167
CEP290
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2011 2011
dbSNP: rs7456421
rs7456421
HIPK2
4 0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.020 1.000 2 2000 2015
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2003 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2003 2009
dbSNP: rs12026
rs12026
PON2
6 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1382048442
rs1382048442
ABCC2
2 0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs138207257
rs138207257
HOGA1
2 0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2000 2000
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs202047589
rs202047589
HOGA1
2 0.925 0.160 10 97599780 missense variant C/T snv 4.4E-05 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs538166970
rs538166970
ACE
2 0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008