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: rs1327062642
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 1.000 1 2017 2017
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 0