rs1395475624, SCAPER

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.
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
5 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0