rs794728002, PCARE

N. diseases: 2
Source: CLINVAR ×
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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
420 0.925 0.080 2 29071494 frameshift variant AGGGCTGGCTTCC/- delins 0.700 0
RETINITIS PIGMENTOSA 54
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
6 0.925 0.080 2 29071494 frameshift variant AGGGCTGGCTTCC/- delins 0.700 0