rs132630297, PHF6

N. diseases: 6
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.
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
Borjeson-Forssman-Lehmann syndrome
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
15 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
Delayed speech and language development
192 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0