Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs373909351
IQCB1
0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 6
rs398123538
IQCB1
0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 6
rs62654397
ABCA4
1.000 1 94111537 missense variant G/A;C snv 8.0E-06 2