Disease: Cerebrooculofacioskeletal Syndrome 2
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913026
ERCC2
0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 3
rs376556895
ERCC2
0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 3
rs41556519
ERCC2
0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 3