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: rs121918455
rs121918455
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
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: rs387907144
rs387907144
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: rs80338796
rs80338796
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: rs779027563
rs779027563
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: rs864309486
rs864309486
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: rs1060503383
rs1060503383
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs121918467
rs121918467
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1232880706
rs1232880706
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1553284997
rs1553284997
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1554121443
rs1554121443
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1554196416
rs1554196416
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1555038111
rs1555038111
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1555154946
rs1555154946
0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1555395001
rs1555395001
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1555954284
rs1555954284
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1557036768
rs1557036768
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1563183492
rs1563183492
0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1564919048
rs1564919048
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1566913974
rs1566913974
0.807 0.200 15 48505029 missense variant A/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs180177039
rs180177039
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0