rs1057516034, 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 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016