rs1563183469, AUTS2

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.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
8 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0