Source: CLINVAR

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: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1114167292
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs398122845
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs552184470
rs552184470
GUCY2D
1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs730882209
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs767982852
rs767982852
RUBCN
0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2017 2017
dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs142285818
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs770703007
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs775796581
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs121918358
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs1217391623
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0