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: rs748379243
rs748379243
ERCC8
6 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs757744435
rs757744435
NPR2
4 1.000 0.080 9 35794009 missense variant A/G;T snv 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs863223330
rs863223330
SIX1 ; MIR9718
8 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
dbSNP: rs869025316
rs869025316
UNC80
4 0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 0.700 0
dbSNP: rs869025317
rs869025317
UNC80
4 0.925 0.160 2 209959707 missense variant G/C snv 0.700 0
dbSNP: rs869025318
rs869025318
UNC80
4 0.925 0.160 2 209820379 frameshift variant A/- delins 0.700 0
dbSNP: rs869025319
rs869025319
UNC80
4 0.925 0.160 2 209967586 stop gained T/A snv 0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs897535441
rs897535441
ERCC8
5 0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 0.700 0