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: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.040 0.750 4 2012 2017
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.030 0.667 3 2015 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.030 0.667 3 2015 2017
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 < 0.001 1 2019 2019
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2017 2017