Disease: Nuchal bleb, familial
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs268
LPL
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 41
rs118204057
LPL
0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 16
rs150599989
C5AR2
0.827 0.320 19 47341767 missense variant G/A;C;T snv 4.0E-06; 9.6E-05 5