Source: CURATED

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: rs748442113
rs748442113
OCLN
1.000 0.120 5 69534840 splice donor variant G/A;T snv 2.1E-05; 8.6E-06
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.700 0
dbSNP: rs797045840
rs797045840
OCLN
0.925 0.120 5 69534844 splice region variant G/A snv
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.700 0
dbSNP: rs797045841
rs797045841
OCLN
1.000 0.120 5 69509261 frameshift variant GGACCTCTCCTCCAGGAGTGAT/- delins
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.700 0