Source: UNIPROT ×
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: rs397515440
rs397515440
NUBPL
1 1.000 14 31599310 missense variant G/T snv 2.0E-05 2.8E-05 0.800 1.000 2 2010 2013
dbSNP: rs552722349
rs552722349
NUBPL
1 1.000 14 31787845 missense variant A/C;G snv 2.8E-05 0.800 1.000 2 2010 2013