rs796053361, STXBP1

N. diseases: 4
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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 3 2014 2017
Epileptic Encephalopathy, Early Infantile, 4
37 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 4 2014 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 27 1998 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 27 1998 2016