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: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs61755320
rs61755320
SPG7
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: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
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: 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: rs61754381
rs61754381
TYR ; LOC107984363
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
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: rs150726175
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04
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: rs144078282
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
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: 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: rs146539065
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs200203460
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
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: rs758361736
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0