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
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv 13
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 11
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 9
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv 7
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins 5
rs137852944
PKHD1
0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 5
rs775606471
GCDH
1.000 0.120 19 12896938 missense variant G/A;C;T snv 1.2E-05 3