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: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
dbSNP: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
9 0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
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: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs142157346
rs142157346
FXN
4 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs374263073
rs374263073
LAMC2
3 0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs770703007
rs770703007
MAPK8IP3
8 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 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: rs562740927
rs562740927
PANK2
1 1.000 0.080 20 3910728 missense variant A/G snv 2.3E-04 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs1158702707
rs1158702707
PDGFB
1 1.000 0.080 22 39231710 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057518936
rs1057518936
PNPLA6
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0