Disease: Abnormal delivery
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14