Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 20
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1057518946
GJB1
0.882 0.080 X 71223816 missense variant G/T snv 8
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6