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: rs1555350254
rs1555350254
OTX2
1 1.000 0.080 14 56802333 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
5 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
dbSNP: rs104893802
rs104893802
SOX2 ; SOX2-OT
3 0.882 0.160 3 181712650 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs376960358
rs376960358
BMP4
1 1.000 0.080 14 53951861 missense variant T/C snv 3.4E-04 1.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs387906597
rs387906597
BMP4
4 0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs587777512
rs587777512
LRBA ; MAB21L2
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014