Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 2
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv 7
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs758737171
GCK
0.925 0.040 7 44145210 missense variant C/T snv 2.9E-05 1.4E-05 1
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs730882175
KCNH1
1.000 0.120 1 210804143 missense variant C/T snv 3
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 2
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins 2
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins 2
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs387906788
MAP3K1
1.000 5 56856683 missense variant T/A;C;G snv 2