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: rs1057518923
rs1057518923
PKD1
3 0.925 0.200 16 2115395 frameshift variant -/C delins 0.700 0
dbSNP: rs16347
rs16347
IL1A
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2009 2019
dbSNP: rs730947
rs730947 		2 0.925 0.080 2 218838575 upstream gene variant A/C snv 1.0E-01 0.010 1.000 1 2010 2010
dbSNP: rs75444904
rs75444904
HPR ; TXNL4B
4 0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 1999 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.090 0.778 9 1997 2015
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2002 2009
dbSNP: rs73885319
rs73885319
APOL1
6 0.851 0.120 22 36265860 missense variant A/G snv 1.6E-02 6.6E-02 0.020 1.000 2 2010 2019
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs12197043
rs12197043 		3 0.882 0.160 6 149130141 regulatory region variant A/G snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs12434215
rs12434215
RTN1
3 0.882 0.160 14 59642862 intron variant A/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2001 2001
dbSNP: rs2576178
rs2576178
RNLS ; LIPJ
9 0.790 0.160 10 88583641 5 prime UTR variant A/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs2838302
rs2838302
SIK1
2 0.925 0.080 21 43419273 intron variant A/G snv 1.0E-01 0.010 1.000 1 2014 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2014 2014