rs797045841, OCLN

N. diseases: 1
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.
Pseudo-TORCH syndrome
CUI: C3489725
Disease: Pseudo-TORCH syndrome
3 1.000 0.120 5 69509261 frameshift variant GGACCTCTCCTCCAGGAGTGAT/- delins 0.700 0