Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 8
rs1559307932
PDE6D
0.807 0.360 2 231737190 frameshift variant -/C ins 8
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs121908131
APTX
0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 1
rs121908132
APTX
0.851 0.240 9 32974544 missense variant A/C snv 1
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 1