rs886039911, RPGRIP1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LEBER CONGENITAL AMAUROSIS 6 (disorder)
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
19 0.882 0.080 14 21307830 splice donor variant AGAGGTGAGTTGCCATCATCA/- delins 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.882 0.080 14 21307830 splice donor variant AGAGGTGAGTTGCCATCATCA/- delins 0.700 0
Pendular Nystagmus
CUI: C0271388
Disease: Pendular Nystagmus
2 0.882 0.080 14 21307830 splice donor variant AGAGGTGAGTTGCCATCATCA/- delins 0.700 0