rs772690312, EXT2

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.
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
27 0.925 0.160 11 44197916 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
6 0.925 0.160 11 44197916 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0