Disease: Premature Birth
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
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11