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: 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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs148292941
rs148292941
PPOX ; B4GALT3
4 1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
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: rs397518483
rs397518483
RARB
9 0.851 0.120 3 25596428 missense variant C/A;T snv 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: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
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: 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: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0