Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs137852769
GAREM2 ; HADHA
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs397509425
GMPPB
0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05 4
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs886039392
ITPR1
0.882 0.240 3 4645678 missense variant C/T snv 4
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs797044883
MAGEL2
0.882 0.160 15 23645831 stop gained G/A snv 4
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs121909283
NODAL
0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 4
rs797044884
PTRH2 ; CLTC
0.925 17 59677123 frameshift variant -/GA delins 4
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 4
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4