rs1057518928, SOX5

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.
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0