Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554865146
PAX2
10 100809207 stop gained C/G snv 1
rs1553923787
PPP3CA
1.000 4 101083202 missense variant C/T snv 2
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs398122828
COL11A1
1.000 0.240 1 102915630 splice donor variant C/T snv 2
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv 2
rs1556267123
PLP1 ; RAB9B
X 103786627 frameshift variant AG/- del 1
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs151344530
TFAP2A ; TFAP2A-AS2
0.925 0.040 6 10404511 missense variant C/G;T snv 3
rs151344525
TFAP2A-AS2 ; TFAP2A
0.925 0.040 6 10404562 missense variant C/G;T snv 3
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs1556299881
PRPS1
1.000 X 107640900 splice acceptor variant A/G snv 2
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1555205335
TRPV4
12 109788404 missense variant A/C snv 1
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs281875226
SMARCA4
1.000 19 11019661 missense variant C/T snv 2
rs281875227
SMARCA4
1.000 19 11021761 missense variant C/T snv 2
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 5
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs1554787366
COL27A1
9 114167926 frameshift variant T/- del 1
rs1554816354
COL27A1
9 114252621 missense variant G/A snv 1
rs1554829390
COL27A1 ; LOC105376224
1.000 9 114307746 stop gained C/T snv 2