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: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1559307932
rs1559307932
PDE6D
8 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs1064651
rs1064651
GBA
13 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs121908131
rs121908131
APTX
4 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121908132
rs121908132
APTX
4 0.851 0.240 9 32974544 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs137852763
rs137852763
MRE11
6 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011