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: rs1003869920
rs1003869920
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 3 2011 2017
dbSNP: rs1003869920
rs1003869920
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 1.000 2 2011 2019