Disease: Familial multiple trichoepitheliomata
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs2308327
MGMT
0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 10