rs794729668, MED25;FUZ

N. diseases: 2
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.
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
3 0.925 0.160 19 49818457 missense variant A/G snv 0.800 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 19 49818457 missense variant A/G snv 0.010 1.000 1 2015 2015