Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 16
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 15
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 6
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 6
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 4
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv 4