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: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0