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: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
7 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567
MDH2
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs121434578
rs121434578
ABAT
5 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1553654413
rs1553654413
ITPR1
4 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411
BPTF
10 0.790 0.360 17 67894102 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1561500885
rs1561500885
SMN1 ; SMN2
2 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007
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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
5 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 0.700 1.000 1 2010 2010
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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
5 1.000 6 33441374 splice region variant G/A snv 0.700 0