Source: CURATED ×
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: rs587777623
rs587777623
DEAF1
5 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 4 2014 2017
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
5 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
3 0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins 0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
9 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 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: rs878855331
rs878855331
TPP1
5 0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 0.700 0
dbSNP: rs879253887
rs879253887
IGHMBP2
6 0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796
MDH2
7 0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 0.700 1.000 1 2017 2017
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: rs1085307451
rs1085307451
DHX30 ; MIR1226
4 0.925 0.160 3 47848246 missense variant C/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: rs1131692228
rs1131692228
ACTL6B
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0