Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv 7