rs1555411378, DYNC1H1

N. diseases: 2
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.
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.925 0.080 14 102033157 missense variant C/T snv 0.700 1.000 1 2018 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
20 0.925 0.080 14 102033157 missense variant C/T snv 0.700 1.000 1 2018 2018