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: rs1028344225
rs1028344225
RARB
3 0.925 0.120 3 25596566 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121912543
rs121912543
VSX2
4 0.851 0.080 14 74259621 missense variant G/A;C snv 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: 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: 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: rs193929392
rs193929392
ARHGAP6 ; HCCS
4 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs200671094
rs200671094
BMP4
4 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2009 2009
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: rs387907095
rs387907095
PRSS56
2 0.925 0.080 2 232523492 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs552445199
rs552445199
TMX3
2 0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs587777690
rs587777690
TMEM98
2 0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06 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: rs80358194
rs80358194
FOXE3 ; LINC01389
2 0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04 0.010 1.000 1 2010 2010