rs869312693, DYNC1H1

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.
Cortical Dysplasia
CUI: C0431380
Disease: Cortical Dysplasia
6 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
20 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0