Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 24
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 14
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs1131692227
KDM5C
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6