rs587784000, NIPBL

N. diseases: 5
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.
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
266 0.882 0.120 5 37044480 missense variant G/C;T snv 0.800 1.000 9 2004 2017
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0