Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs387906836
TULP1
0.851 0.080 6 35503763 missense variant G/A snv 5
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv 5
rs140047318
BMPR1B
0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 3
rs77096466
GNAS
1.000 0.080 20 58905474 missense variant C/T snv 1
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs267607016
ROR2
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05 3
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs199566527
NOG
0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 3