Disease: Congenital ichthyosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28929485
GJB2
0.807 0.320 13 20189532 missense variant G/A;C snv 7
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 6
rs1373855924
VPS33B ; LOC105370970
0.851 0.240 15 91009812 missense variant C/T snv 4.0E-06 4
rs1457403673
KRT14
0.882 0.120 17 41586785 missense variant G/A snv 7.0E-06 4
rs118203937
CYP4F22
0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 3