rs730882202, CACNA1G

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.
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0