Disease: Severe Combined Immunodeficiency
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
rs74315329
MYOC ; MYOCOS
0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 9
rs1555908409
RAC2
0.851 0.160 22 37232842 missense variant C/T snv 7