rs1557569831, SZT2

N. diseases: 8
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 anterior fontanelle
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
3 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
6 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0