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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0