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: rs1554985722
rs1554985722
PAX6
2 0.925 0.200 11 31802714 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs33912345
rs33912345
SIX6 ; C14orf39
7 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs74315439
rs74315439
CRYAA ; LOC107987300
7 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs869025222
rs869025222
RARB
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
dbSNP: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0