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: rs1567815105
rs1567815105
ADGRG1
7 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
dbSNP: rs886041876
rs886041876
HUWE1
7 0.851 0.280 X 53551078 missense variant G/A snv 0.700 0
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
dbSNP: rs869312822
rs869312822
GNB1
8 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1553196101
rs1553196101
CDC42
8 0.925 0.080 1 22086507 missense variant T/C snv 0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
dbSNP: rs376823382
rs376823382
TYR ; LOC107984363
8 0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 0.700 0
dbSNP: rs794727792
rs794727792
STXBP1
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs1555570110
rs1555570110
MPDU1
9 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
9 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555483699
rs1555483699
GRIN2A
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs185476065
rs185476065
QARS1 ; MIR6890
11 0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs1555570093
rs1555570093
MPDU1
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs376754460
rs376754460
PMM2
12 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs913477149
rs913477149
RFT1
13 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
dbSNP: rs864309488
rs864309488
GMNN
14 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015