rs527624522, EXT2

N. diseases: 5
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.
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
6 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0