rs864309676, STX7

N. diseases: 7
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.
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Neuronal heterotopia
CUI: C0266491
Disease: Neuronal heterotopia
3 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016