rs149595793, DLG3

N. diseases: 3
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
MENTAL RETARDATION, X-LINKED 90 (disorder)
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
5 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0