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: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 2 2013 2014
dbSNP: rs387907144
rs387907144
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
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: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 2 2007 2007
dbSNP: rs121918358
rs121918358
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
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: rs1555817157
rs1555817157
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
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
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: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 1 2014 2014
dbSNP: rs752746786
rs752746786
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
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: rs778361520
rs778361520
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: rs869312824
rs869312824
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
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: rs1057518787
rs1057518787
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1057518802
rs1057518802
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1057518822
rs1057518822
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1057518836
rs1057518836
0.882 0.120 X 43949887 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1057518843
rs1057518843
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1057518963
rs1057518963
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1114167290
rs1114167290
0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1114167292
rs1114167292
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1135402761
rs1135402761
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0