Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs121909641
FGFR1
0.763 0.520 8 38419720 missense variant G/A snv 9
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs374434303
PNPLA6
0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 4
rs121909628
FGFR1
0.925 0.160 8 38414892 stop gained G/A;C snv 3
rs515726224
FGFR1
0.925 0.320 8 38417962 missense variant C/T snv 3
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv 3
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv 3
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 3
rs774526181
POLR3B
0.882 0.200 12 106427360 splice donor variant T/C snv 8.0E-06 2.1E-05 3
rs727505372
TAC3
0.925 0.040 12 57013359 missense variant G/T snv 3
rs727505374
ANOS1
1.000 0.040 X 8539744 stop gained G/A snv 2
rs876661330
FGF8 ; LOC105378457
0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 2
rs727505370
FGFR1
1.000 0.040 8 38414840 missense variant A/G snv 2
rs727505371
FGFR1
1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06 2
rs727505376
FGFR1
0.925 0.160 8 38414279 missense variant C/G;T snv 2
rs199538589
HS6ST1
0.925 0.040 2 128268254 missense variant G/A snv 1.9E-03 9.3E-04 2
rs28939719
KISS1R
0.882 0.040 19 919563 missense variant T/C snv 2
rs606231407
LOC105378457 ; FGF8
1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05 2
rs376239580
PROKR2
0.925 0.040 20 5302632 missense variant G/A snv 1.2E-05 2.1E-05 2
rs730882248
RNF216 ; MIR6874
0.925 0.160 7 5711761 splice region variant C/T snv 2
rs104893836
UBA6-AS1 ; GNRHR
0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 2
rs727505367
UBA6-AS1 ; GNRHR
1.000 0.040 4 67753986 missense variant A/C snv 1.4E-05 2
rs121909640
FGFR1
0.925 0.160 8 38429898 missense variant C/T snv 1
rs727505377
FGFR1
1.000 0.040 8 38414001 missense variant A/G snv 1