Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.800 1.000 0 2004 2017
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0