rs1057518849, EHMT1

N. diseases: 4
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.
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0