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: rs1237955948
rs1237955948
2 1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs1429442821
rs1429442821
2 1.000 0.120 21 42380116 splice donor variant C/T snv 0.700 0
dbSNP: rs181949335
rs181949335
3 0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04 0.020 1.000 2 2007 2017
dbSNP: rs139805921
rs139805921
2 1.000 0.120 21 42388935 missense variant G/A snv 2.1E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs145913750
rs145913750
1 21 42383169 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007