Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794254
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 3 2007 2012
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 2 2012 2015
dbSNP: rs1057516044
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 1 2016 2016
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 1 2017 2017
dbSNP: rs1057516049
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554844486
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs199473457
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0