rs375761808, ARID1A

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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0