Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs587777732
MIR3646 ; HNF4A
0.763 0.240 20 44406195 missense variant C/T snv 5
rs1057518775
KCNJ11
0.851 0.160 11 17387907 missense variant G/A;C snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs193922479
HNF4A
0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06 2
rs268
LPL
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 2
rs137852671
ABCC8
0.790 0.160 11 17394295 missense variant C/T snv 1
rs121909730
GLUD1
0.882 0.040 10 87053380 missense variant G/A snv 1
rs121909731
GLUD1
0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 1
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 1
rs121913564
MC4R
0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 1
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 1