Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9