Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0