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: 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
dbSNP: rs377669670
rs377669670
FOXE3 ; LINC01389
2 0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 0.700 0
dbSNP: rs755377651
rs755377651
FOXE3 ; LINC01389
2 0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs387907095
rs387907095
PRSS56
2 0.925 0.080 2 232523492 missense variant G/C snv 0.010 1.000 1 2011 2011
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: rs397518483
rs397518483
RARB
9 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
dbSNP: rs1028344225
rs1028344225
RARB
3 0.925 0.120 3 25596566 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs869025221
rs869025221
RARB
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
dbSNP: rs869025222
rs869025222
RARB
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
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: rs1243762658
rs1243762658
TENM3
5 0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs755000701
rs755000701
TENM3
5 0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 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: rs1329285216
rs1329285216
RBP4 ; FFAR4
2 0.925 0.080 10 93593997 missense variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1554985722
rs1554985722
PAX6
2 0.925 0.200 11 31802714 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs374823079
rs374823079
MFRP ; C1QTNF5
1 1.000 0.080 11 119341673 missense variant G/A snv 8.5E-05 3.5E-05 0.700 0
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: 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: 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