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: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs28934908
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs397507539
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs758361736
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs869312687
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 4 2002 2009
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 2 2006 2006
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 2 2007 2007
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 2 2012 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2015 2015
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2019 2019