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: rs201680145
rs201680145
NOTCH3 ; MIR6795
3 0.882 0.200 19 15179052 missense variant G/A;T snv 8.9E-04 0.720 1.000 2 2012 2016
dbSNP: rs797045014
rs797045014
NOTCH3
4 0.851 0.160 19 15192182 missense variant G/A;T snv 0.710 1.000 2 1997 2000
dbSNP: rs137852642
rs137852642
NOTCH3
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.100 1.000 12 2000 2020
dbSNP: rs1555729604
rs1555729604
NOTCH3
2 0.925 0.160 19 15192449 missense variant G/A snv 0.040 1.000 4 2002 2017
dbSNP: rs145069047
rs145069047
NOTCH3
2 0.925 0.160 19 15192493 missense variant C/A;G;T snv 4.6E-06; 2.6E-04 0.030 1.000 3 2006 2020
dbSNP: rs201118034
rs201118034
NOTCH3
6 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.030 1.000 3 2013 2015
dbSNP: rs28933698
rs28933698
NOTCH3
4 0.882 0.160 19 15189004 missense variant A/G snv 0.030 1.000 3 2002 2017
dbSNP: rs1555727942
rs1555727942
NOTCH3 ; MIR6795
3 0.925 0.160 19 15180807 missense variant G/A snv 0.020 1.000 2 2006 2009
dbSNP: rs75068032
rs75068032
NOTCH3
5 0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05 0.020 1.000 2 2013 2019
dbSNP: rs775836288
rs775836288
NOTCH3
2 0.925 0.160 19 15192389 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2006 2017
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1188389375
rs1188389375
NOTCH3
1 1.000 0.160 19 15192193 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1328784046
rs1328784046
NOTCH3
2 0.925 0.160 19 15185502 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs137852641
rs137852641
NOTCH3
2 0.925 0.160 19 15191466 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1438626607
rs1438626607
NOTCH3 ; MIR6795
1 1.000 0.160 19 15180173 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1555730189
rs1555730189
NOTCH3
2 0.925 0.160 19 15197537 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs199800281
rs199800281
CUX1
1 1.000 0.160 7 102104413 missense variant C/T snv 1.5E-04 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs201128004
rs201128004
SART3
1 1.000 0.160 12 108549121 stop gained G/A;T snv 4.0E-06; 1.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs28933696
rs28933696
NOTCH3
5 0.882 0.160 19 15192134 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs754554486
rs754554486
NOTCH3
1 1.000 0.160 19 15187186 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs768965053
rs768965053
NOTCH3
1 1.000 0.160 19 15192398 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs769773673
rs769773673
NOTCH3
2 0.925 0.160 19 15187213 missense variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs769867284
rs769867284
TPX2
1 1.000 0.160 20 31770392 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2004 2004