Disease: Synophrys
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13