rs797045840, OCLN

N. diseases: 2
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 0.925 0.120 5 69534844 splice region variant G/A snv 0.700 0
PSEUDO-TORCH SYNDROME 1
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
5 0.925 0.120 5 69534844 splice region variant G/A snv 0.700 0