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: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1556955128
rs1556955128
HUWE1
3 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs397507542
rs397507542
PTPN11
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
dbSNP: rs762864856
rs762864856
GLRA1 ; LOC112267935
3 0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs770499406
rs770499406
ERCC8
4 0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs777323132
rs777323132
CAPN3
4 0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 0.700 0
dbSNP: rs886041239
rs886041239
SMC3
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs1246651989
rs1246651989
CRB1
2 0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs797045140
rs797045140
IQSEC2
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0