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: 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: 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: rs121434618
rs121434618
BCOR
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.030 1.000 3 2009 2019
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: rs755799430
rs755799430
VSX2
2 0.925 0.080 14 74259689 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
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: rs869025268
rs869025268
VSX2
1 1.000 0.080 14 74239626 frameshift variant -/G delins 1.3E-05 0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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