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: rs1057515422
rs1057515422
NOTCH1
1 1.000 0.080 9 136513049 stop gained G/C snv 0.700 1.000 2 2005 2016
dbSNP: rs1057515423
rs1057515423
NOTCH1
1 1.000 0.080 9 136506852 stop gained G/T snv 0.700 1.000 2 2005 2016
dbSNP: rs1057518661
rs1057518661
NOTCH1
1 1.000 0.080 9 136497391 stop gained G/C snv 0.700 0
dbSNP: rs1246889300
rs1246889300
SMAD6
2 0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06 0.700 0
dbSNP: rs138111911
rs138111911
ROBO4 ; LOC107984406
2 1.000 0.080 11 124891383 missense variant C/A;G snv 4.7E-06; 5.2E-05 0.700 0
dbSNP: rs138370967
rs138370967
ROBO4 ; LOC107984406
2 1.000 0.080 11 124897049 missense variant C/A;T snv 6.8E-05 0.700 0
dbSNP: rs1395007983
rs1395007983
SMAD6
1 1.000 0.080 15 66703949 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1419095990
rs1419095990
SMAD6
1 1.000 0.080 15 66703950 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs150700978
rs150700978
ROBO4 ; LOC107984406
2 1.000 0.080 11 124895897 missense variant G/A snv 1.0E-04 8.4E-05 0.700 0
dbSNP: rs1565322176
rs1565322176
ROBO4
2 1.000 0.080 11 124887166 missense variant GC/AG mnv 0.700 0
dbSNP: rs1565326476
rs1565326476
ROBO4 ; LOC107984406
2 1.000 0.080 11 124894286 missense variant A/T snv 0.700 0
dbSNP: rs1567092020
rs1567092020
SMAD6
1 1.000 0.080 15 66704028 missense variant C/T snv 0.700 0
dbSNP: rs1567092071
rs1567092071
SMAD6
2 0.925 0.080 15 66704052 frameshift variant A/- del 0.700 0
dbSNP: rs201393279
rs201393279
ROBO4 ; LOC107984406
2 1.000 0.080 11 124897142 missense variant G/A;T snv 2.0E-04 0.700 0
dbSNP: rs201492213
rs201492213
ROBO4 ; LOC107984406
2 1.000 0.080 11 124891545 stop gained G/A;C snv 8.0E-05 0.700 0
dbSNP: rs41309764
rs41309764
NOTCH1
1 1.000 0.080 9 136508238 stop gained G/A snv 0.700 0
dbSNP: rs41309766
rs41309766
NOTCH1
1 1.000 0.080 9 136505384 frameshift variant G/- del 0.700 0
dbSNP: rs61755997
rs61755997
NOTCH1
2 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs755569942
rs755569942
ROBO4 ; LOC107984406
2 1.000 0.080 11 124891736 frameshift variant GTCCCGAGAGCCAG/- delins 6.4E-05 1.4E-05 0.700 0
dbSNP: rs755747435
rs755747435
ROBO4 ; LOC107984406
2 1.000 0.080 11 124895654 missense variant T/G snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs764038221
rs764038221
ROBO4
2 1.000 0.080 11 124887732 splice donor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs768542939
rs768542939
SMAD6
1 1.000 0.080 15 66703869 missense variant G/A;C snv 0.700 0
dbSNP: rs779392207
rs779392207
ROBO4 ; LOC107984406
2 1.000 0.080 11 124895852 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs863224901
rs863224901
NOTCH1
1 1.000 0.080 9 136513108 frameshift variant C/- del 0.700 0
dbSNP: rs900988907
rs900988907
SMAD6
1 1.000 0.080 15 66781048 missense variant C/A;G snv 0.700 0