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: rs587777596
rs587777596
NPR2
1 1.000 9 35805586 missense variant C/T snv 4.0E-06 0.800 1.000 4 2012 2014
dbSNP: rs587777597
rs587777597
NPR2
1 1.000 9 35801668 missense variant G/A;C snv 4.0E-06 0.800 1.000 4 2012 2014
dbSNP: rs1554672893
rs1554672893
NPR2
2 0.925 0.040 9 35799732 splice donor variant G/C snv 0.700 1.000 2 2004 2013
dbSNP: rs1563993649
rs1563993649
NPR2 ; SPAG8
2 0.925 0.040 9 35808507 splice acceptor variant A/T snv 0.700 1.000 1 2004 2004
dbSNP: rs587777595
rs587777595
NPR2 ; SPAG8
2 0.925 0.080 9 35807333 missense variant G/A snv 0.700 0