Disease: Synophrys
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv 7