rs1057516048, NSD1

N. diseases: 8
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.
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
201 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016