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: 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: 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
dbSNP: rs1217391623
rs1217391623
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs121907922
rs121907922
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1488635637
rs1488635637
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1553281318
rs1553281318
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1554110735
rs1554110735
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1554558365
rs1554558365
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1554768245
rs1554768245
0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1555350397
rs1555350397
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs1555377415
rs1555377415
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0