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: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
8 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
8 0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs869312875
rs869312875
MED13L
3 0.882 0.160 12 116237653 frameshift variant -/C delins 0.700 0
dbSNP: rs886041262
rs886041262
KCNQ2
6 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 0