Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 9
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 9
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs875989883
PTCHD1-AS ; PHEX
0.851 0.280 X 22219070 missense variant G/A;C snv 9
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 8
rs748219743
UGT1A7 ; UGT1A1 ; UGT1A9 ; UGT1A6 ; UGT1A4 ; UGT1A3 ; UGT1A5 ; UGT1A10 ; UGT1A8
1.000 0.080 2 233760634 frameshift variant -/A delins 4