rs1554558365, TMEM67

N. diseases: 4
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.
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0