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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs121912491
rs121912491
LAMB2
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs139994842
rs139994842
NOTCH1
3 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs1437439236
rs1437439236
SGPL1
3 0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2222722
rs2222722
LINC00472 ; MIR30A
2 1.000 0.080 6 71404009 intron variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs3124591
rs3124591
NOTCH1
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs3124599
rs3124599
NOTCH1
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs33388
rs33388
NR3C1
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs33389
rs33389
NR3C1
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514479
rs397514479
ENTPD5 ; COQ6
2 1.000 14 73961339 missense variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs437168
rs437168
NPHS1
2 1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs4431401
rs4431401
NT5E
1 6 85479802 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs6020178
rs6020178
SNAI1
1 20 49987403 intron variant T/C snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2004 2004
dbSNP: rs74315343
rs74315343
NPHS2
5 0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs9444348
rs9444348
NT5E
2 6 85465856 intron variant G/A snv 0.43 0.010 1.000 1 2018 2018