Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs6954895 7 35546596 intergenic variant T/C snv 0.28 2
rs2148710
FYN
6 111801023 intron variant C/G;T snv 2
rs3752433
PTCHD1-AS ; PHEX
X 22221603 intron variant C/T snv 0.26 0.34 2
rs2844775
TRIM26
6 30211645 intron variant G/A snv 0.19 2