rs730882247, TMEM92

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.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0