Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587784042
rs587784042
NIPBL
1 1.000 0.080 5 36971002 missense variant A/G snv 0.800 1.000 9 2004 2017