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: rs1555639411
rs1555639411
BPTF
10 0.790 0.360 17 67894102 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs121913371
rs121913371
BRAF
3 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs6768972
rs6768972
CRBN
2 1.000 0.160 3 3180101 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1554944271
rs1554944271
DEAF1
14 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2011 2011
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
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: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
15 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0