rs730882220, FAM20C

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.
Cortical Dysplasia
CUI: C0431380
Disease: Cortical Dysplasia
6 1.000 0.080 7 256001 missense variant C/T snv 7.1E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 1.000 0.080 7 256001 missense variant C/T snv 7.1E-06 0.700 0
Neonatal Death
CUI: C0410916
Disease: Neonatal Death
10 1.000 0.080 7 256001 missense variant C/T snv 7.1E-06 0.700 0